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Xu W, Wei Y, Gao X, Yang X, Wang L, Gao W, Zhu X, Liu B. The incidence and risk factors of fetuses with mirror-image dextrocardia with solitus inversus. Cardiol Young 2025; 35:275-282. [PMID: 39716943 DOI: 10.1017/s1047951124026192] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/25/2024]
Abstract
OBJECTIVE This research seeks to ascertain the prevalence and determinants of mirror-image dextrocardia in fetuses. STUDY DESIGN With December 2022 as the reference point, we compiled colleted data on pregnant women who carried fetuses with mirror-image dextrocardia in Xi'an, Shaanxi Province: September-October 2022, November 2022, and December 2022-January 2023. An online questionnaire was distributed to 209 pregnant across China who had contracted COVID-19. The case group comprised women whose final menstrual cycle occurred in November 2022 and who had a fetus with mirror-image dextrocardia. Women with a November 2022 final menstrual period and a fetus without this condition made up the control group. To identify the risk factors associated with fetal mirror-image dextrocardia, both univariate and multivariate logistic regression analyses were employed. RESULTS A significant difference was noted in the gestational age at COVID-19 infection women with a September to October 2022 and December 2022 to January 2023 final menstrual period who did not bear a fetus with mirror-image dextrocardia, and those with a November 2022 final menstrual period whose fetus exhibited this condition. The univariate and multivariate analyses conducted on pregnant women with a final menstrual period in November 2022 who had contracted COVID-19 revealed significant differences in the presence and duration of fever between those bearing fetuses with mirror-image dextrocardia and those without (P = 0.000). CONCLUSION The findings suggest two critical factors to the increased prevalence of fetal mirror-image dextrocardia: 1) the infection timing which occurs between the 4th and 6th week of pregnancy and 2) the presence of fever and its prolonged duration.
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Affiliation(s)
- Wenjiao Xu
- Department of Ultrasound, Xi'an International Medical Center Hospital, Xi'an, Shaanxi, China
| | - Yajuan Wei
- Department of Ultrasound, Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China
| | - Xinru Gao
- Department of Ultrasound, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China
| | - Xiaoxue Yang
- Department of Ultrasound, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China
| | - Liping Wang
- Department of Ultrasound, Xi'an International Medical Center Hospital, Xi'an, Shaanxi, China
| | - Wenlian Gao
- Department of Ultrasound, Xi'an Angel Women's & Children's Hospital, Xi'an, Shaanxi, China
| | - Xumin Zhu
- Department of Ultrasound, Xi'an Angel Women's & Children's Hospital, Xi'an, Shaanxi, China
| | - Baomin Liu
- Department of Ultrasound, Xi'an International Medical Center Hospital, Xi'an, Shaanxi, China
- Department of Ultrasound, Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China
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Shahid S, Khurram H, Lim A, Shabbir MF, Billah B. Prediction of cyanotic and acyanotic congenital heart disease using machine learning models. World J Clin Pediatr 2024; 13:98472. [PMID: 39654661 PMCID: PMC11572620 DOI: 10.5409/wjcp.v13.i4.98472] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/27/2024] [Revised: 08/28/2024] [Accepted: 09/23/2024] [Indexed: 10/30/2024] Open
Abstract
BACKGROUND Congenital heart disease is most commonly seen in neonates and it is a major cause of pediatric illness and childhood morbidity and mortality. AIM To identify and build the best predictive model for predicting cyanotic and acyanotic congenital heart disease in children during pregnancy and identify their potential risk factors. METHODS The data were collected from the Pediatric Cardiology Department at Chaudhry Pervaiz Elahi Institute of Cardiology Multan, Pakistan from December 2017 to October 2019. A sample of 3900 mothers whose children were diagnosed with cyanotic or acyanotic congenital heart disease was taken. Multivariate outlier detection methods were used to identify the potential outliers. Different machine learning models were compared, and the best-fitted model was selected using the area under the curve, sensitivity, and specificity of the models. RESULTS Out of 3900 patients included, about 69.5% had acyanotic and 30.5% had cyanotic congenital heart disease. Males had more cases of acyanotic (53.6%) and cyanotic (54.5%) congenital heart disease as compared to females. The odds of having cyanotic was 1.28 times higher for children whose mothers used more fast food frequently during pregnancy. The artificial neural network model was selected as the best predictive model with an area under the curve of 0.9012, sensitivity of 65.76%, and specificity of 97.23%. CONCLUSION Children having a positive family history are at very high risk of having cyanotic and acyanotic congenital heart disease. Males are more at risk and their mothers need more care, good food, and physical activity during pregnancy. The best-fitted model for predicting cyanotic and acyanotic congenital heart disease is the artificial neural network. The results obtained and the best model identified will be useful for medical practitioners and public health scientists for an informed decision-making process about the earlier diagnosis and improve the health condition of children in Pakistan.
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Affiliation(s)
- Sana Shahid
- Department of Statistics, Bahauddin Zakariya University, Multan 60000, Punjab, Pakistan
| | - Haris Khurram
- Department of Mathematics and Computer Science, Faculty of Science and Technology, Prince of Songkla University, Pattani Campus, Pattani 94000, Thailand
- Department of Science and Humanities, National University of Computer and Emerging Sciences, Chiniot-Faisalabad Campus, Chiniot 35400, Punjab, Pakistan
| | - Apiradee Lim
- Department of Mathematics and Computer Science, Faculty of Science and Technology, Prince of Songkla University, Pattani Campus, Pattani 94000, Thailand
| | - Muhammad Farhan Shabbir
- Department of Cardiology, Chaudhary Pervaiz Elhai Institute of Cardiology, Multan 60000, Punjab, Pakistan
| | - Baki Billah
- School of Public Health and Preventive Medicine, Monash University, Melbourne 3000, Victoria, Australia
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Shahid S, Khurram H, Shehzad MA, Aslam M. Predictive model for congenital heart disease in children of Pakistan by using structural equation modeling. BMC Med Inform Decis Mak 2024; 24:351. [PMID: 39574092 PMCID: PMC11580548 DOI: 10.1186/s12911-024-02774-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/08/2024] [Accepted: 11/18/2024] [Indexed: 11/25/2024] Open
Abstract
BACKGROUND The structural abnormality of the heart and its blood vessels at the time of birth is known as congenital heart disease. Every year in Pakistan, sixty thousand children are born with CHD, and 44 in 1000 die before they are a month old. Various studies used different techniques to estimate the risk factors of congenital heart disease, but these techniques suffer from a deficiency of capacity to present human understanding and a deficiency of adequate data. The current study provided an innovative approach by defining the latent variables to handle this issue and building a reasonable model. METHOD Data used in this study has been collected from mothers and hospital records of the children. The dataset contains information on 3900 children who visited the OPD of the Chaudry Pervaiz Elahi Institute of Cardiology (CPEIC) Multan, Pakistan from October 2021 to September 2022. The latent variables were defined from the data and structural equation modeling was used to model them. RESULT The results show that there are 53.6% of males have acyanotic CHD and 54.5% have cyanotic CHD. There are 46.4% of females have acyanotic CHD and 45.5% have cyanotic CHD. The children who have no diabetes in the family are 64.0% and children who have diabetes in the family are 36.0% in acyanotic CHD, the children who have no diabetes in the family are 59.7% and children have diabetes in the family are 40.3% in cyanotic CHD. The value of standardized root mean residual is 0.087 is less than 0.089 which shows that the model is a good fit. The value of root mean square error of approximation is 0.113 is less than 0.20 which also shows the good fit of the model. CONCLUSION It was concluded that the model is a good fit. Also, the latent variables, socioeconomic factors, and environmental factors of mothers during pregnancy have a significant effect in causing cyanotic while poor general health factor increases the risk of Acyanotic congenital heart disease.
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Affiliation(s)
- Sana Shahid
- Department of Statistics, Bahauddin Zakariya University, Multan, Pakistan
| | - Haris Khurram
- Department of Mathematics and Computer Science, Faculty of Science and Technology Prince of Songkla University, Pattani Campus, Thailand
- Department of Sciences and Humanities, National University of Computer and Emerging Sciences, Chiniot-Faisalabad Campus, Faisalabad, Pakistan
| | | | - Muhammad Aslam
- Department of Statistics, Faculty of Science, King Abdulaziz University, Jeddah, 21551, Saudi Arabia.
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Majani NG, Koster JR, Kalezi ZE, Letara N, Nkya D, Mongela S, Kubhoja S, Sharau G, Mlawi V, Grobbee DE, Slieker MG, Chillo P, Janabi M, Kisenge P. Spectrum of Heart Diseases in Children in a National Cardiac Referral Center Tanzania, Eastern Africa: A Six-Year Overview. Glob Heart 2024; 19:61. [PMID: 39100942 PMCID: PMC11295910 DOI: 10.5334/gh.1342] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/14/2024] [Accepted: 07/10/2024] [Indexed: 08/06/2024] Open
Abstract
Background While communicable diseases have long been the primary focus of healthcare in Africa, the rising impact of paediatric and congenital heart disease (CHD) cannot be overlooked. This research aimed to estimate the frequency and pattern of heart diseases in children who underwent their first echocardiography at a national cardiac referral hospital in Tanzania. Methods A retrospective observational study was conducted on children aged 0 to 18 years referred for first-time cardiological evaluation from January 2017 to December 2022. Retrieval of social and echocardiogram data and descriptive analysis were performed. Results There were 6,058 children with complete reports. Of these, 52.8% (3,198) had heart disease, of whom 2,559 (80%) had CHD, while (340/639; 53.2%) with acquired heart disease (AHD) had rheumatic heart disease (RHD). Children with CHD had a median age 1.0 years (IQR: 0.3-3.5) and were predominantly 51.2% male. Children with RHD had a median age 9.7 years (IQR: 3.2-13.8) with equal gender distribution. Shunt lesions were common in 1,487 (58.1%), mainly VSD 19.3%, PDA 19.1%, ASD 15.1%, and atrioventricular septal defect (AVSD) 4.6%. Pulmonary valve stenosis was in 97 (3.8%). Around 35% (718) had cyanotic CHD, with TOF being most common (13.3%), followed by double outlet right ventricle (DORV) (3.6%). Compared to global average truncus arteriosus was higher in 69 (2.3%) children. In contrast, TGA and hypoplastic left heart syndrome (HLHS) were lower than the estimated global average seen in 2.3% and 0.5% of the cases, respectively. Atresia of the right-side valves was more common (174 vs. 24), and approximately 40% of the patients referred for first-time echocardiographic evaluation required hospitalization. Conclusion Congenital heart disease is the primary cause of heart disease in children presenting at a national referral hospital, surpassing RHD. With its distinct distribution pattern, acyanotic lesions are more frequent than cyanotic heart diseases. The observed late referral tendencies suggest improving the referral system, enhancing CHD awareness among healthcare professionals, and instituting nationwide screening programs.
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Affiliation(s)
- Naizihijwa G. Majani
- Department of Pediatric Cardiology, Jakaya Kikwete Cardiac Institute, Dar es Salaam, Tanzania
- Julius Global Health, Julius Center for Health Sciences and Primary Care, Utrecht University, Utrecht, The Netherlands
| | - Joëlle R. Koster
- Faculty of Medicine, University of Utrecht, Utrecht, The Netherlands
| | - Zawadi E. Kalezi
- Department of Pediatric Cardiology, Jakaya Kikwete Cardiac Institute, Dar es Salaam, Tanzania
| | - Nuru Letara
- Department of Pediatric Cardiology, Jakaya Kikwete Cardiac Institute, Dar es Salaam, Tanzania
| | - Deogratias Nkya
- Department of Pediatrics, Muhimbili University of Health and Allied Sciences (MUHAS), Dar es Salaam, Tanzania
| | - Stella Mongela
- Department of Pediatric Cardiology, Jakaya Kikwete Cardiac Institute, Dar es Salaam, Tanzania
| | - Sulende Kubhoja
- Department of Pediatric Cardiology, Jakaya Kikwete Cardiac Institute, Dar es Salaam, Tanzania
| | - Godwin Sharau
- Department of Pediatric Cardiac Surgery, Jakaya Kikwete Cardiac Institute, Dar es Salaam, Tanzania
| | - Vivienne Mlawi
- Department of Pediatric Cardiac Surgery, Jakaya Kikwete Cardiac Institute, Dar es Salaam, Tanzania
| | - Diederick E. Grobbee
- Julius Global Health, Julius Center for Health Sciences and Primary Care, Utrecht University, Utrecht, The Netherlands
| | - Martijn. G. Slieker
- Department of Pediatric Cardiology, Wilhelmina Children’s Hospital, Utrecht, The Netherlands
| | - Pilly Chillo
- Department of Internal Medicine, Muhimbili University of Health and Allied Sciences (MUHAS), Dar es Salaam, Tanzania
| | - Mohamed Janabi
- Department of Adult Cardiology, Jakaya Kikwete Cardiac Institute, Dar es Salaam, Tanzania
| | - Peter Kisenge
- Department of Adult Cardiology, Jakaya Kikwete Cardiac Institute, Dar es Salaam, Tanzania
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Liu X, Zhang Y, Zhu H, Jia B, Wang J, He Y, Zhang H. Applications of artificial intelligence-powered prenatal diagnosis for congenital heart disease. Front Cardiovasc Med 2024; 11:1345761. [PMID: 38720920 PMCID: PMC11076681 DOI: 10.3389/fcvm.2024.1345761] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/12/2023] [Accepted: 04/08/2024] [Indexed: 05/12/2024] Open
Abstract
Artificial intelligence (AI) has made significant progress in the medical field in the last decade. The AI-powered analysis methods of medical images and clinical records can now match the abilities of clinical physicians. Due to the challenges posed by the unique group of fetuses and the dynamic organ of the heart, research into the application of AI in the prenatal diagnosis of congenital heart disease (CHD) is particularly active. In this review, we discuss the clinical questions and research methods involved in using AI to address prenatal diagnosis of CHD, including imaging, genetic diagnosis, and risk prediction. Representative examples are provided for each method discussed. Finally, we discuss the current limitations of AI in prenatal diagnosis of CHD, namely Volatility, Insufficiency and Independence (VII), and propose possible solutions.
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Affiliation(s)
- Xiangyu Liu
- School of Biological Science and Medical Engineering, Beihang University, Beijing, China
- Key Laboratory of Data Science and Intelligent Computing, International Innovation Institute, Beihang University, Hangzhou, China
| | - Yingying Zhang
- School of Biological Science and Medical Engineering, Beihang University, Beijing, China
- Key Laboratory of Data Science and Intelligent Computing, International Innovation Institute, Beihang University, Hangzhou, China
| | - Haogang Zhu
- Key Laboratory of Data Science and Intelligent Computing, International Innovation Institute, Beihang University, Hangzhou, China
- State Key Laboratory of Software Development Environment, Beihang University, Beijing, China
- School of Computer Science and Engineering, Beihang University, Beijing, China
| | - Bosen Jia
- School of Biological Sciences, Victoria University of Wellington, Wellington, New Zealand
| | - Jingyi Wang
- Echocardiography Medical Center Beijing Anzhen Hospital, Capital Medical University, Beijing, China
- Maternal-Fetal Medicine Center in Fetal Heart Disease, Beijing Anzhen Hospital, Beijing, China
| | - Yihua He
- Echocardiography Medical Center Beijing Anzhen Hospital, Capital Medical University, Beijing, China
- Maternal-Fetal Medicine Center in Fetal Heart Disease, Beijing Anzhen Hospital, Beijing, China
| | - Hongjia Zhang
- Key Laboratory of Data Science and Intelligent Computing, International Innovation Institute, Beihang University, Hangzhou, China
- Beijing Lab for Cardiovascular Precision Medicine, Beijing, China
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Maddhesiya J, Mohapatra B. Understanding the Genetic and Non-genetic Interconnections in the Aetiology of Isolated Congenital Heart Disease: An Updated Review: Part 1. Curr Cardiol Rep 2024; 26:147-165. [PMID: 38546930 DOI: 10.1007/s11886-024-02022-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 01/15/2024] [Indexed: 04/05/2024]
Abstract
PURPOSE OF REVIEW Congenital heart disease (CHD) is the most frequently occurring birth defect. Majority of the earlier reviews focussed on the association of genetic factors with CHD. A few epidemiological studies provide convincing evidence for environmental factors in the causation of CHD. Although the multifactorial theory of gene-environment interaction is the prevailing explanation, explicit understanding of the biological mechanism(s) involved, remains obscure. Nonetheless, integration of all the information into one platform would enable us to better understand the collective risk implicated in CHD development. RECENT FINDINGS Great strides in novel genomic technologies namely, massive parallel sequencing, whole exome sequencing, multiomics studies supported by system-biology have greatly improved our understanding of the aetiology of CHD. Molecular genetic studies reveal that cardiac specific gene variants in transcription factors or signalling molecules, or structural proteins could cause CHD. Additionally, non-hereditary contributors such as exposure to teratogens, maternal nutrition, parental age and lifestyle factors also contribute to induce CHD. Moreover, DNA methylation and non-coding RNA are also correlated with CHD. Here, we inform that a complex combination of genetic, environmental and epigenetic factors interact to interfere with morphogenetic processes of cardiac development leading to CHD. It is important, not only to identify individual genetic and non-inherited risk factors but also to recognize which factors interact mutually, causing cardiac defects.
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Affiliation(s)
- Jyoti Maddhesiya
- Cytogenetics Laboratory, Department of Zoology, Institute of Science, Banaras Hindu University, Uttar Pradesh, Varanasi, 221005, India
| | - Bhagyalaxmi Mohapatra
- Cytogenetics Laboratory, Department of Zoology, Institute of Science, Banaras Hindu University, Uttar Pradesh, Varanasi, 221005, India.
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Silveira DB, Batisti RDS, Marchezi LV, da Rocha BF, da Rosa EB, Correia JD, da Silva LLDM, Rosa RFM, Zen PRG. Patients' prognosis with congenital heart disease followed by ten years: survival and associated factors. REVISTA PAULISTA DE PEDIATRIA : ORGAO OFICIAL DA SOCIEDADE DE PEDIATRIA DE SAO PAULO 2024; 42:e2023134. [PMID: 38359320 PMCID: PMC10868512 DOI: 10.1590/1984-0462/2024/42/2023134] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 07/06/2023] [Accepted: 10/11/2023] [Indexed: 02/17/2024]
Abstract
OBJECTIVE To evaluate the prognosis and influence of associated factors in patients with congenital heart disease admitted for the first time to the Intensive Care Unit of the Hospital da Criança Santo Antônio/Irmandade da Santa Casa de Misericórdia de Porto Alegre, especially those factors associated with death. METHODS Patients were prospectively and consecutively allocated over a period of one year (August 2005 to July 2006). Now, 15 years after the initial selection, we collected data from these patients in the database of the Cytogenetics Laboratory of the Universidade Federal de Ciências da Saúde de Porto Alegre and in the medical records of the hospital. RESULTS Of the 96 patients, 11 died and 85 were alive until 20 years old. Four patients died in the Intensive Care Unit. The survival probability up to 365 days of life was 95.8%. The survival assessment identified that the deaths occurred mainly before the patients completed one thousand days of life. We found that complex heart disease was independently associated with an odds ratio of 5.19 (95% confidence interval - CI:1.09-24.71; p=0.038) for death. CONCLUSIONS Knowledge about the factors that interfere with the prognosis can be crucial in care practice planning, especially considering that congenital heart disease is an important cause of mortality in the first year of life.
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Affiliation(s)
- Daniélle Bernardi Silveira
- Universidade Federal de Ciências da Saúde de Porto Alegre, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil
| | - Rodrigo da Silva Batisti
- Universidade Federal de Ciências da Saúde de Porto Alegre, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil
| | - Liana Vitória Marchezi
- Universidade Federal de Ciências da Saúde de Porto Alegre, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil
| | - Beatriz Felipe da Rocha
- Universidade Federal de Ciências da Saúde de Porto Alegre, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil
| | - Ernani Bohrer da Rosa
- Universidade Federal de Ciências da Saúde de Porto Alegre, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil
| | - Jamile Dutra Correia
- Universidade Federal de Ciências da Saúde de Porto Alegre, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil
| | - Leonardo Leiria de Moura da Silva
- Universidade Federal de Ciências da Saúde de Porto Alegre, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil
| | - Rafael Fabiano Machado Rosa
- Universidade Federal de Ciências da Saúde de Porto Alegre, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil
| | - Paulo Ricardo Gazzola Zen
- Universidade Federal de Ciências da Saúde de Porto Alegre, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil
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Li J, Zhang C, Mao B, Liu Q, Wang Y, Yi B, Liu Q. Association between aluminum and iron exposure in maternal blood and umbilical cord blood and congenital heart defects in children. PeerJ 2024; 12:e16755. [PMID: 38274332 PMCID: PMC10809980 DOI: 10.7717/peerj.16755] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/30/2023] [Accepted: 12/13/2023] [Indexed: 01/27/2024] Open
Abstract
Background Congenital heart disease (CHDs) is the major cause of mortality from birth defects, affecting up to 1% of live births worldwide. However, the relationship between aluminum (Al) and iron (Fe) levels and the risk of CHDs has yielded inconsistent results. Methods We conducted a pair-matched case-control study that included 97 CHDs and 194 non-CHDs to investigate the association and interaction between Al/Fe exposure and the risk of CHDs in a birth cohort study in Lanzhou, China. Results Higher concentrations of cord blood Al were associated with a greater risk of total CHDs (aOR = 2.826, 95% CI [1.009-7.266]) and isolated CHDs (aOR = 10.713, 95% CI [1.017-112.851]) compared to the lowest Al level. Both in maternal blood and cord blood, a significant dose-effect was observed between Al level and total CHDs (Ptrend < 0.05), but a similar pattern was not observed for Fe. High Al in addition to high Fe appeared to elicit a stronger association with CHDs than both lowest tertile of Al and Fe level in umbilical cord blood, particularly for multiple CHDs, septal defects and patent ductus arteriosus. Conclusions Our study suggests that exposure to Al during pregnancy (≥2,408 μg/L) is significantly associated with an increased risk of CHDs in offspring, especially septal defects, and that high levels of Al and Fe are strongly correlated with fetal heart development. Further research is needed to understand the underlying mechanisms.
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Affiliation(s)
- Jing Li
- Department of Scientific Research Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, Gansu Provincial, China
- Laboratory Medicine Center, Lanzhou University Second Hospital, Lanzhou, Gansu Provincial, China
| | - Chunhua Zhang
- Department of Scientific Research Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, Gansu Provincial, China
| | - Baohong Mao
- Department of Scientific Research Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, Gansu Provincial, China
| | - Qian Liu
- Department of Scientific Research Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, Gansu Provincial, China
| | - Yanxia Wang
- Department of Scientific Research Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, Gansu Provincial, China
| | - Bin Yi
- Department of Neonatology, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, Gansu Provincial, China
| | - Qing Liu
- Department of Gynecology, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, Gansu Provincial, China
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Wilsdon A, Loughna S. Human Genetics of Congenital Heart Defects. ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY 2024; 1441:57-75. [PMID: 38884704 DOI: 10.1007/978-3-031-44087-8_2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/18/2024]
Abstract
Congenital heart diseases (or congenital heart defects/disorders; CHDs) are structural abnormalities of the heart and/or great vessels that are present at birth. CHDs include an extensive range of defects that may be minor and require no intervention or may be life-limiting and require complex surgery shortly after birth. This chapter reviews the current knowledge on the genetic causes of CHD.
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Affiliation(s)
- Anna Wilsdon
- School of Life Sciences, University of Nottingham, Nottingham, UK.
- Clinical Geneticist at Nottingham Clinical Genetics Department, Nottingham University Hospitals, City Hospital, Nottingham, UK.
| | - Siobhan Loughna
- School of Life Sciences, University of Nottingham, Nottingham, UK
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Dehghan B, Sabri MR, Ahmadi A, Ghaderian M, Mahdavi C, Ramezani Nejad D, Sattari M. Identifying the Factors Affecting the Incidence of Congenital Heart Disease Using Support Vector Machine and Particle Swarm Optimization. Adv Biomed Res 2023; 12:130. [PMID: 37434918 PMCID: PMC10331520 DOI: 10.4103/abr.abr_54_22] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/16/2022] [Revised: 10/09/2022] [Accepted: 10/12/2022] [Indexed: 07/13/2023] Open
Abstract
Background Congenital malformations are defined as "any defect in the structure of a person that exists from birth". Among them, congenital heart malformations have the highest prevalence in the world. This study focuses on the development of a predictive model for congenital heart disease in Isfahan using support vector machine (SVM) and particle swarm intelligence. Materials and Methods It consists of four parts: data collection, preprocessing, identify target features, and technique. The proposed technique is a combination of the SVM method and particle swarm optimization (PSO). Results The data set includes 1389 patients and 399 features. The best performance in terms of accuracy, with 81.57%, is related to the PSO-SVM technique and the worst performance, with 78.62%, is related to the random forest technique. Congenital extra cardiac anomalies are considered as the most important factor with averages of 0.655. Conclusion Congenital extra cardiac anomalies are considered as the most important factor. Detecting more important feature affecting congenital heart disease allows physicians to treat the variable risk factors associated with congenital heart disease progression. The use of a machine learning approach provides the ability to predict the presence of congenital heart disease with high accuracy and sensitivity.
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Affiliation(s)
- Bahar Dehghan
- Pediatric Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran
| | - Mohammad Reza Sabri
- Pediatric Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran
| | - Alireza Ahmadi
- Pediatric Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran
| | - Mehdi Ghaderian
- Pediatric Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran
| | - Chehreh Mahdavi
- Pediatric Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran
| | - Davood Ramezani Nejad
- Pediatric Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran
| | - Mohammad Sattari
- Health Information Technology Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
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Mamasoula C, Bigirumurame T, Chadwick T, Addor MC, Cavero-Carbonell C, Dias CM, Echevarría-González-de-Garibay LJ, Gatt M, Khoshnood B, Klungsoyr K, Randall K, Stoianova S, Haeusler M, Nelen V, Neville AJ, Perthus I, Pierini A, Bertaut-Nativel B, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Zymak-Zakutnia N, Barisic I, de Walle HEK, Lanzoni M, Sayers G, Mullaney C, Pennington L, Rankin J. Maternal age and the prevalence of congenital heart defects in Europe, 1995-2015: A register-based study. Birth Defects Res 2023; 115:583-594. [PMID: 36734416 DOI: 10.1002/bdr2.2152] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/10/2022] [Revised: 12/18/2022] [Accepted: 01/10/2023] [Indexed: 02/04/2023]
Abstract
BACKGROUND Evidence on the direction and strength of association between maternal age and the prevalence of congenital heart defects (CHD) in different age group categories is conflicting. Some studies have illustrated different trends with an increase in prevalence in younger and older age groups while other studies have reported a linear relationship. Given the increase in maternal age over recent years, it is important to study the CHD prevalence by maternal age. OBJECTIVES To examine the association between maternal age and the prevalence of CHD in Europe between 1995 and 2015 using population-based data from 24 registries belonging to the European Surveillance of Congenital Anomalies (EUROCAT) network. METHODS Associations over time of all nonsyndromic CHD according to maternal age category and for three CHD severity groupings (severity group I: very severe; severity group II: severe; severity group III: less severe) were examined using Bayesian multilevel Poisson regression modeling. Further subgroup analyses were undertaken within four maternal age-bands: ≤24, 25-29, 30-34 and 35-44 years. Descriptive summaries are also presented. RESULTS There were 51,608 nonsyndromic CHD cases in Europe over the 20-year study period. Total prevalence for all CHD combined was increased for younger mothers (≤24 years) and for mothers 35-44 years of age when compared with mothers aged 25-29 years (reference group) (IRR: 1.05, 95% CI: 1.02, 1.07). The total prevalence was increased for severity group I (very severe) only for younger mothers compared to those aged 25-29 years (IRR: 1.14, 95% CI: 1.04, 1.23). We found an increased prevalence of the following CHD subtypes: double outlet right ventricle (IRR:1.33, 95% CI: 1.09, 1.60), hypoplastic left heart syndrome (IRR: 1.18, 95% CI: 1.05, 1.32), hypoplastic right heart syndrome (IRR: 1.41, 95% CI: 1.05, 1.84), atrioventricular septal defect (IRR: 1.15, 95% CI: 1.01, 1.32), coarctation of aorta (IRR: 1.15, 95% CI: 1.03, 1.28) and atrial septal defect (IRR: 1.08, 95% CI: 1.02, 1.13). For older mothers (35-44 years) compared to the reference category, we observed an increased risk in the prevalence for severity group II (IRR: 1.09, 95% CI: 1.03, 1.14), severity group III (IRR: 1.05, 95% CI: 1.01, 1.08) and an increased prevalence of the CHD subtypes: Pulmonary valve stenosis (IRR: 1.22, 95% CI: 1.09, 1.34), ASD (IRR: 1.07, 95% CI: 1.02, 1.13), CoA (IRR: 1.18, 95% CI: 1.06, 1.32) and Tetralogy of Fallot (IRR: 1.14, 95% CI: 1.01, 1.28). Finally, for all age categories compared to the reference category, different associations of ASD and an increased prevalence of CoA was also observed. CONCLUSIONS Based on data for cases of CHD from 24 European population-based registries, evidence of a positive association between maternal age and the total prevalence of CHD for younger (≤24 years old) and older (35-44 years old) mothers was observed. The results suggest that young maternal age (≤24 years old) is a factor associated with severe CHD phenotypes while a positive association between advanced maternal age (35-44 years old) and mild CHD phenotypes was observed.
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Affiliation(s)
| | | | - Thomas Chadwick
- Population Health Sciences Institute, Newcastle University, Newcastle, UK
| | - Marie-Claude Addor
- Department of Woman-Mother-Child, University Medical Center CHUV, Lausanne, Switzerland
| | - Clara Cavero-Carbonell
- Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain
| | - Carlos M Dias
- Population Health Sciences Institute, Newcastle University, Newcastle, UK
- Epidemiology Department, National Institute of Health Doutor Ricardo Jorge, Lisbon, Portugal
| | - Luis-Javier Echevarría-González-de-Garibay
- Ministry of Health of the Basque Government. Directorate for Healthcare Planning, Organisation and Evaluation, Registries and Health Information Unit, Vitoria-Gasteiz, Spain
| | - Miriam Gatt
- Malta Congenital Anomalies Register, Directorate for Health Information and Research, Pietà, Malta
| | - Babak Khoshnood
- Université de Paris, INSERM U1153, CRESS, Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), Paris, France
| | - Kari Klungsoyr
- Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway
- Division for Mental and Physical Health, Norwegian Institute of Public Health, Bergen, Norway
| | - Kay Randall
- National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK
| | - Sylvia Stoianova
- South West Congenital Anomaly Register, Bristol Medical School, University of Bristol, Bristol, UK
| | - Martin Haeusler
- Styrian Malformation Registry, Med. University of Graz, Graz, Austria
| | - Vera Nelen
- Provinciaal Instituut voor Hygiene (PIH), Antwerp, Belgium
| | - Amanda J Neville
- Registro IMER - IMER Registry (Emilia Romagna Registry of Birth Defects), Center for Clinical and Epidemiological Research, University of Ferrara, Ferrara, Italy
| | - Isabelle Perthus
- Auvergne registry of congenital anomalies (CEMC-Auvergne), Department of clinical genetics, Centre de Référence des Maladies Rares, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France
| | - Anna Pierini
- Tuscany Registry of Congenital Defects (RTDC), Institute of Clinical Physiology - National Research Council/ Fondazione Toscana Gabriele Monasterio, Pisa, Italy
| | | | - Anke Rissmann
- Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University, Magdeburg, Germany
| | - Florence Rouget
- Brittany Registry of Congenital Anomalies, CHU Rennes, University Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail), Rennes, France
| | - Bruno Schaub
- French West Indies Registry, Registre des Malformations des Antilles (REMALAN), Maison de la Femme de la Mère et de l'Enfant, University Hospital of Martinique, Fort-de-France, France
| | - David Tucker
- CARIS, Public Health Wales, Singleton Hospital, Swansea, UK
| | - Diana Wellesley
- Wessex Clinical Genetics Department, Princess Anne Hospital, Southampton, UK
| | - Natalya Zymak-Zakutnia
- OMNI-Net Ukraine Birth Defects Program and Khmelnytsky City Children's Hospital, Khmelnytsky, Ukraine
| | - Ingeborg Barisic
- Centre of Excellence for Reproductive and Regenerative Medicine, Children's Hospital Zagreb, Medical School University of Zagreb, Zagreb, Croatia
| | - Hermien E K de Walle
- University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands
| | - Monica Lanzoni
- European Commission, Joint Research Centre (JRC), Ispra, Italy
| | - Gerardine Sayers
- Health Service Executive, Dr Steeven's Hospital, Dublin, Ireland
| | - Carmel Mullaney
- Department of Public Health, Service Executive (HSE) South East Area, Limerick, Ireland
| | - Lindsay Pennington
- Population Health Sciences Institute, Newcastle University, Newcastle, UK
| | - Judith Rankin
- Population Health Sciences Institute, Newcastle University, Newcastle, UK
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12
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Ruan Y, Xie Z, Liu X, He Y. Associated factors for prenatally diagnosed fetal congenital heart diseases. BMC Cardiovasc Disord 2023; 23:52. [PMID: 36707754 PMCID: PMC9883969 DOI: 10.1186/s12872-022-02981-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/17/2022] [Accepted: 11/28/2022] [Indexed: 01/28/2023] Open
Abstract
OBJECTIVE Current studies have suggested that fetal congenital heart diseases (CHDs) are caused by various factors. However, few data in this field is available in China. This study aimed to detect associated factors of prenatally diagnosed fetal CHD in a large sample in China. STUDY DESIGN Pregnant women who underwent fetal echocardiography were recruited in our hospital between May 2018 and September 2019. The maternal sociodemographic and lifestyle characteristics and some fetal factors were obtained. We used forward stepwise logistic regression analysis to assess risk of fetal CHD associated with various factors. RESULTS A total of 5024 subjects were enrolled, of whom 875 had CHD fetuses. Among the fetal CHD group (N = 875), critical CHDs account for 27%, of which Tetralogy of Fallot is the most (7.1%), followed by coarctation of aorta (4.0%), double-outlet right ventricle (2.9%). The forward stepwise logistic regression models revealed that history of spontaneous abortion (OR = 1.59, 95% CI 1.33-1.91, P = 0.000), upper respiratory tract infection during early pregnancy (OR = 1.30, 95% CI 1.04-1.62, P = 0.020), mental stress during early pregnancy (OR = 2.37, 95% CI 1.15-4.91, P = 0.020), single umbilical artery (OR = 2.30, 95% CI 1.18-4.51, P = 0.015), and paternal smoking (OR = 1.21, 95% CI 1.02-1.44, P = 0.027) are positively associated with an increased risk of fetal CHD. CONCLUSION We identified several factors positively associated with fetal CHD. These findings suggest that it is important to strengthen healthcare and prenatal counseling for women with these factors.
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Affiliation(s)
- Yanping Ruan
- grid.24696.3f0000 0004 0369 153XEchocardiography Medical Center, Beijing Anzhen Hospital, Capital Medical University, No.2 Anzhen Road, Chaoyang District, Beijing, China ,grid.24696.3f0000 0004 0369 153XMaternal-Fetal Medicine Center in Fetal Heart Disease, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029 China
| | - Zan Xie
- grid.440323.20000 0004 1757 3171Department of Cardiology, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai City, 264000 China
| | - Xiaowei Liu
- grid.24696.3f0000 0004 0369 153XEchocardiography Medical Center, Beijing Anzhen Hospital, Capital Medical University, No.2 Anzhen Road, Chaoyang District, Beijing, China ,grid.24696.3f0000 0004 0369 153XMaternal-Fetal Medicine Center in Fetal Heart Disease, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029 China
| | - Yihua He
- grid.24696.3f0000 0004 0369 153XEchocardiography Medical Center, Beijing Anzhen Hospital, Capital Medical University, No.2 Anzhen Road, Chaoyang District, Beijing, China ,grid.24696.3f0000 0004 0369 153XMaternal-Fetal Medicine Center in Fetal Heart Disease, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029 China
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13
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Cao Y, Huang R, Kong R, Li H, Zhang H, Li Y, Liang L, Xiong D, Han S, Zhou L, Guo J, Dai G, Meng M, Lou H, Hou Z, Jiang L. Prevalence and risk factors for congenital heart defects among children in the Multi-Ethnic Yunnan Region of China. Transl Pediatr 2022; 11:813-824. [PMID: 35800272 PMCID: PMC9253957 DOI: 10.21037/tp-21-371] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/07/2021] [Accepted: 03/17/2022] [Indexed: 11/30/2022] Open
Abstract
BACKGROUND To determine the congenital heart defect (CHD) prevalence and identify the associated risk factors in children within the multi-ethnic Yunnan Region of China. METHODS This is a prospective matched case-control screening study. Screening for CHD in children residing within 28 county districts of Yunnan Province during the period of January 2001 to December 2016 was conducted. A total of 2,421 and CHD cohort and 24,210 control cohort were derived from a total population of 400,855 children (under 18 years of age). RESULTS A total of 2,421 children were diagnosed with CHD, yielding a CHD prevalence of 6.04 cases per 1,000 children. The prevalence of CHD by sex was 6.54 per 1,000 females versus 5.59 per 1,000 males. The ethnic groups displaying the highest CHD prevalence were the Lisu (15.51 per 1,000), Achang (13.18 per 1,000), Jingpo (12.32 per 1,000), Naxi (9.68 per 1,000), and Tibetan (8.57 per 1,000), respectively. The most common CHD was atrial septal defect, amounting to 1.94 instances per 1,000 children. We identified a number of child-associated parameters that significantly correlated with greater CHD risk, such as lower mass at birth, shorter duration of gestation, and younger age at the time of screening. We also identified a number of maternal and familial risk factors. CONCLUSIONS This ultrasonic color Doppler imaging study revealed a relatively commonplace prevalence of CHD. Moreover, the prevalence of CHD in Yunnan Region significantly varied with sex and ethnic status. Certain child-associated, maternal, and familial risk factors may contribute to CHD risk.
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Affiliation(s)
- Yu Cao
- Department of Cardiovascular Surgery, the First Peoples' Hospital of Yunnan Province, Kunming, China.,Department of Cardiovascular Surgery, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
| | - Rongzhong Huang
- Department of Cardiovascular Surgery, the First Peoples' Hospital of Yunnan Province, Kunming, China.,Department of Cardiovascular Surgery, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
| | - Ruize Kong
- Department of Cardiovascular Surgery, the First Peoples' Hospital of Yunnan Province, Kunming, China.,Department of Cardiovascular Surgery, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
| | - Hongrong Li
- Department of Cardiovascular Surgery, the First Peoples' Hospital of Yunnan Province, Kunming, China.,Department of Cardiovascular Surgery, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
| | - Hong Zhang
- Department of Cardiology, the First Peoples' Hospital of Yunnan Province, Kunming, China.,Department of Cardiology, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
| | - Yaxiong Li
- Department of Cardiovascular Surgery, Yan'an Affiliated Hospital of Kunming Medical University, Kunming, China.,Key Laboratory of Cardiovascular Disease of Yunnan Province, Kunming, China
| | - Liwen Liang
- Department of Cardiology, the First Peoples' Hospital of Yunnan Province, Kunming, China.,Department of Cardiology, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
| | - Da Xiong
- Department of Cardiovascular Surgery, the First Peoples' Hospital of Yunnan Province, Kunming, China.,Department of Cardiovascular Surgery, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
| | - Shen Han
- Department of Cardiovascular Surgery, Yan'an Affiliated Hospital of Kunming Medical University, Kunming, China.,Key Laboratory of Cardiovascular Disease of Yunnan Province, Kunming, China
| | - Liang Zhou
- Department of Cardiology, the First Peoples' Hospital of Yunnan Province, Kunming, China.,Department of Cardiology, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
| | - Junyin Guo
- Department of Cardiology, the First Peoples' Hospital of Yunnan Province, Kunming, China.,Department of Cardiology, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
| | - Guolin Dai
- Department of Cardiovascular Surgery, the First Peoples' Hospital of Yunnan Province, Kunming, China.,Department of Cardiovascular Surgery, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
| | - Mingyao Meng
- Department of Central Laboratory, Yan'an Affiliated Hospital of Kunming Medical University, Kunming, China
| | - Hongbo Lou
- Department of Cardiology, the First Peoples' Hospital of Yunnan Province, Kunming, China.,Department of Cardiology, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
| | - Zongliu Hou
- Department of Central Laboratory, Yan'an Affiliated Hospital of Kunming Medical University, Kunming, China
| | - Lihong Jiang
- Department of Cardiovascular Surgery, the First Peoples' Hospital of Yunnan Province, Kunming, China.,Department of Cardiovascular Surgery, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China
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14
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An Emerging Role for Epigenetics in Cerebral Palsy. J Pers Med 2021; 11:jpm11111187. [PMID: 34834539 PMCID: PMC8625874 DOI: 10.3390/jpm11111187] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/28/2021] [Revised: 11/04/2021] [Accepted: 11/09/2021] [Indexed: 12/29/2022] Open
Abstract
Cerebral palsy is a set of common, severe, motor disabilities categorized by a static, nondegenerative encephalopathy arising in the developing brain and associated with deficits in movement, posture, and activity. Spastic CP, which is the most common type, involves high muscle tone and is associated with altered muscle function including poor muscle growth and contracture, increased extracellular matrix deposition, microanatomic disruption, musculoskeletal deformities, weakness, and difficult movement control. These muscle-related manifestations of CP are major causes of progressive debilitation and frequently require intensive surgical and therapeutic intervention to control. Current clinical approaches involve sophisticated consideration of biomechanics, radiologic assessments, and movement analyses, but outcomes remain difficult to predict. There is a need for more precise and personalized approaches involving omics technologies, data science, and advanced analytics. An improved understanding of muscle involvement in spastic CP is needed. Unfortunately, the fundamental mechanisms and molecular pathways contributing to altered muscle function in spastic CP are only partially understood. In this review, we outline evidence supporting the emerging hypothesis that epigenetic phenomena play significant roles in musculoskeletal manifestations of CP.
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15
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Yang L, Liu X, Chen Y, Shen B. An update on the CHDGKB for the systematic understanding of risk factors associated with non-syndromic congenital heart disease. Comput Struct Biotechnol J 2021; 19:5741-5751. [PMID: 34765091 PMCID: PMC8556603 DOI: 10.1016/j.csbj.2021.10.017] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/09/2021] [Revised: 09/29/2021] [Accepted: 10/10/2021] [Indexed: 02/05/2023] Open
Abstract
The Congenital Heart Disease Genetic Knowledge Base (CHDGKB) was established in 2020 to provide comprehensive knowledge about the genetics and pathogenesis of non-syndromic CHD (NS-CHD). In addition to the genetic causes of NS-CHD, environmental factors such as maternal drug use and gene-environment interactions can also lead to CHD. There is a need to integrate this information into a platform for clinicians and researchers to better understand the overall risk factors associated with NS-CHD. The updated CHDGKB contains the genetic and non-genetic risk factors from over 4200 records from PubMed that was manually curated to include the information associated with NS-CHD. The current version of CHDGKB, named CHD-RF-KB (KnowledgeBase for non-syndromic Congenital Heart Disease-associated Risk Factors), is an important tool that allows users to evaluate the recurrence risk and prognosis of NS-CHD, to guide treatment and highlight the precautions of NS-CHD. In this update, we performed extensive functional analyses of the genetic and non-genetic risk information in CHD-RF-KB. These data can be used to systematically understand the heterogeneous relationship between risk factors and NS-CHD phenotypes.
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Affiliation(s)
- Lan Yang
- Center of Prenatal Diagnosis, Wuxi Maternal and Child Health Hospital affiliated to Nanjing Medical University, Wuxi, China
- Center for Systems Biology, Soochow University, Suzhou 215006, China
| | - Xingyun Liu
- Center for Systems Biology, Soochow University, Suzhou 215006, China
- Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China
| | - Yalan Chen
- Center for Systems Biology, Soochow University, Suzhou 215006, China
| | - Bairong Shen
- Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China
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16
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Gu J, Guan HB. Maternal psychological stress during pregnancy and risk of congenital heart disease in offspring: A systematic review and meta-analysis. J Affect Disord 2021; 291:32-38. [PMID: 34023745 DOI: 10.1016/j.jad.2021.05.002] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/01/2020] [Revised: 01/03/2021] [Accepted: 05/01/2021] [Indexed: 02/06/2023]
Abstract
Background The relationship between maternal psychological stress during pregnancy and risk of congenital heart disease (CHD) in offspring is still unclear. We conducted a meta-analysis to quantitatively evaluate the association. Methods Literature search was performed through May 2020 using PubMed and Web of Science databases. Observational studies evaluating the associations of maternal psychological stress including stress, stress life events, anxiety and depression with CHD risk in offspring were eligible for the study. Results Ten case-control studies with 16,382 CHD cases and 1,812,999 non-CHD controls were included in the meta-analysis. Four studies assessed the association between maternal stress during pregnancy and CHD risk in offspring. The pooled odds ratio (OR) was 2.11 (95%CI: 1.62, 2.74) for those mothers with stress during pregnancy. Six studies assessed the association between maternal stressful life events during pregnancy and CHD risk in offspring. The pooled OR was 1.86 (95%CI: 1.29, 2.68) for those mothers exposed to stressful life events during pregnancy. Maternal anxiety and depression may not be associated with CHD risk in offspring. The pooled ORs were 1.42 (95%CI: 0.53, 3.77) and 2.10 (95%CI: 0.46, 9.59) for the maternal anxiety and depression during pregnancy, respectively. Limitations Residual confounding, heterogeneity and publication bias may exist, which may limit the interpretation of the results. Conclusion Maternal stress and stressful life events during pregnancy may be associated with higher risk of CHD in offspring, but such association was not observed for other mental health exposures such as anxiety and depression.
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Affiliation(s)
- Jing Gu
- Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, No. 36, San Hao Street, Shenyang, Liaoning 110004, China
| | - Hong-Bo Guan
- Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, No. 36, San Hao Street, Shenyang, Liaoning 110004, China.
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17
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Jin X, Ni W, Wang G, Wu Q, Zhang J, Li G, Jiao N, Chen W, Liu Q, Gao L, Xing Q. Incidence and risk factors of congenital heart disease in Qingdao: a prospective cohort study. BMC Public Health 2021; 21:1044. [PMID: 34078335 PMCID: PMC8173734 DOI: 10.1186/s12889-021-11034-x] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/07/2020] [Accepted: 05/11/2021] [Indexed: 11/12/2022] Open
Abstract
Background Many studies have been conducted to assess the incidence of congenital heart disease (CHD). However, results were greatly inconsistent among these studies with a broad range of findings. Methods A prospective census-based cohort study was conducted in Qingdao, China, from August 1, 2018 to April 30, 2019. All of the local registered pregnant women were continuously investigated and followed from 15 to 20 weeks of gestation to delivery, tracking the CHD cases in both the fetal and neonatal stages. A logistic regression model was applied to assess the association between CHD and possible risk factors. Results The positive rate of prenatal CHD screening was 14.36 per 1000 fetuses and the incidence of CHD was 9.38 per 1000 live births. Results from logistic regression indicated that, living in the countryside (odds ratio, (OR): 0.771; 95% confidence interval, (CI): 0.628–0.946) and having a childbearing history (OR: 0.802; 95%CI: 0.676–0.951) were negatively associated with CHD. However, twin pregnancy (OR: 1.957, 95% CI: 1.245–3.076), illness in the first trimester (OR: 1.306; 95% CI: 1.048–1.628), a family history of CHD (OR: 7.156; 95% CI: 3.293–15.552), and having a child with a birth defect (OR: 2.086; 95% CI: 1.167–3.731) were positively associated with CHD. Conclusion CHD is a serious health problem in Qingdao. The CHD incidence found in this study was similar to existing research. The positive rate of prenatal CHD screening was higher than the incidence of neonatal CHD. Moreover, CHD risk factors were identified in our study, and our findings may have great implications for formation CHD intervention strategies. Supplementary Information The online version contains supplementary material available at 10.1186/s12889-021-11034-x.
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Affiliation(s)
- Xiao Jin
- Qingdao University, Qingdao, Shandong Province, China
| | - Wei Ni
- Qingdao Women and Children's Hospital, Qingdao University, Qingdao, Shandong Province, No.6 Tongfu Road, Qingdao, 266000, China
| | - Guolan Wang
- Qingdao Women and Children's Hospital, Qingdao University, Qingdao, Shandong Province, No.6 Tongfu Road, Qingdao, 266000, China
| | - Qin Wu
- Qingdao Women and Children's Hospital, Qingdao University, Qingdao, Shandong Province, No.6 Tongfu Road, Qingdao, 266000, China
| | - Jun Zhang
- Qingdao Women and Children's Hospital, Qingdao University, Qingdao, Shandong Province, No.6 Tongfu Road, Qingdao, 266000, China
| | - Guoju Li
- Qingdao Women and Children's Hospital, Qingdao University, Qingdao, Shandong Province, No.6 Tongfu Road, Qingdao, 266000, China
| | - Na Jiao
- Qingdao Women and Children's Hospital, Qingdao University, Qingdao, Shandong Province, No.6 Tongfu Road, Qingdao, 266000, China
| | - Wenjing Chen
- Qingdao Maternal and Child Health Care and Family Planning Service Center, Qingdao University, Qingdao, Shandong Province, China
| | - Qing Liu
- Qingdao Maternal and Child Health Care and Family Planning Service Center, Qingdao University, Qingdao, Shandong Province, China
| | - Li Gao
- Qingdao Maternal and Child Health Care and Family Planning Service Center, Qingdao University, Qingdao, Shandong Province, China
| | - Quansheng Xing
- Qingdao Women and Children's Hospital, Qingdao University, Qingdao, Shandong Province, No.6 Tongfu Road, Qingdao, 266000, China.
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18
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Yang G, Deng X, Xiao J, Huang P, Zhang K, Li Y. Maternal fever during preconception and conception is associated with congenital heart diseases in offspring: An updated meta-analysis of observational studies. Medicine (Baltimore) 2021; 100:e24899. [PMID: 33655950 PMCID: PMC7939217 DOI: 10.1097/md.0000000000024899] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/30/2020] [Accepted: 02/01/2021] [Indexed: 12/16/2022] Open
Abstract
BACKGROUNDS Many studies have evaluated the effect of maternal fever on the development risk of congenital heart diseases (CHDs) in offspring, but the findings were inconsistent. Furthermore, a complete overview of the existing data was also missing. Therefore, we intend to provide updated epidemiologic evidence to estimate the association between maternal fever and the risk of overall CHDs and specific CHD phenotypes in offspring. METHODS Pubmed, Embase, and Web of Science were searched through March 2020 to identify eligible studies that assessed the association between maternal fever and CHDs risk in offspring. The summary risk estimates were calculated using random-effects models. Potential heterogeneity source was explored by subgroup analyses and potential publication bias was assessed by Begg funnel plots and Begg rank correlation test. RESULTS Sixteen studies involving 31,922 CHDs cases among 183,563 participants were included in this meta-analysis. Overall, mothers who had a fever experience during preconception and conception periods had a significantly higher risk of overall CHDs in offspring (odds ratio [OR] = 1.45, 95% confidence interval [CI]: 1.21-1.73) when compared with those who did not have a fever experience. For specific CHD phenotypes in offspring, a statistically significant association was found between maternal fever and risk of conotruncal defects (CTD) (OR = 1.38, 95%CI: 1.01-1.89), atrial septal defects (ASD) (OR = 1.48, 95% CI: 1.01-2.17), transposition of the great vessels (TGA) (OR = 1.81, 95% CI: 1.14-2.88), and right ventricular outflow tract obstruction (RVOTO) (OR = 1.66, 95% CI: 1.04-2.65). Relevant heterogeneity moderators have been identified by subgroup analyses, and sensitivity analyses yielded consistent results. CONCLUSIONS Although the role of potential bias and evidence of heterogeneity should be carefully evaluated, our review indicates that maternal fever is significantly associated with the risk of CHDs in offspring, which highlights that preventing maternal fever during the preconception and conception periods play an important role in decreasing the risk of CHDs in offspring. However, given the limited number of current case-control studies, larger-sample prospective studies are required to further confirm our results. Besides, due to the underlying mechanisms between maternal fever and the risk of specific CHD phenotypes in offspring are still unreported, more research is needed to explore the possible mechanisms.
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Affiliation(s)
- Guihong Yang
- Department of Cardiothoracic Surgery, Hunan Children's Hospital
| | - Xicheng Deng
- Department of Cardiothoracic Surgery, Hunan Children's Hospital
| | - Jianfeng Xiao
- Department of Clinical Laboratory, Geological Mining Hospital of Hunan Province, Changsha, Hunan, China
| | - Peng Huang
- Department of Cardiothoracic Surgery, Hunan Children's Hospital
| | - Kai Zhang
- Department of Cardiothoracic Surgery, Hunan Children's Hospital
| | - Yunfei Li
- Department of Cardiothoracic Surgery, Hunan Children's Hospital
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Qu Y, Lin S, Bloom MS, Wang X, Ye B, Nie Z, Ou Y, Mai J, Wu Y, Gao X, Xiao X, Tan H, Liu X, Chen J, Zhuang J. Maternal folic acid supplementation mediates the associations between maternal socioeconomic status and congenital heart diseases in offspring. Prev Med 2021; 143:106319. [PMID: 33166566 DOI: 10.1016/j.ypmed.2020.106319] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/23/2020] [Revised: 10/23/2020] [Accepted: 11/03/2020] [Indexed: 10/23/2022]
Abstract
Low maternal socioeconomic status (SES) is considered as a risk factor of congenital heart diseases (CHDs) in offspring. However, the pathways underpinning the SES-CHDs associations are unclear. We assessed if first trimester maternal folic acid supplementation (FAS) is a mediator of the SES-CHDs associations. This case-control study included 8379 CHD cases and 6918 CHD-free controls from 40 participating centers in Guangdong, Southern China, 2004-2016. All fetuses were screened for CHDs using ultrasound and cases were confirmed by echocardiogram. We collected SES and FAS information during face-to-face interview by obstetricians using a structured questionnaire. Low SES was defined as education attainment <12 years, household individual income <3000 Chinese Yuan/person/month or unemployment. FAS referred to at least 0.4 mg of daily folic acid intake over 5 days/week continuously. We used causal mediation analysis to estimate the direct, indirect and proportion mediated by FAS on the SES-CHDs associations adjusted for confounders. Both low maternal income and education were significantly associated with increased risks of CHDs and lower prevalence of FAS. Low maternal FAS prevalence mediated 10% [95%CI:5%,13%] and 3% [95%CI:1%,5%] of the maternal low income-CHDs and the maternal low education-CHDs associations, respectively. In addition, FAS mediated the highest proportion of the associations between income and multiple critical CHDs [46.9%, 95%CI:24.7%,77%] and conotruncal defects [31.5%, 95%CI:17.1%,52.0%], respectively. Maternal FAS partially mediated the SES-CHDs associations, especially among the most critical and common CHDs. Promoting FAS in low SES women of childbearing age may be a feasible intervention to help prevent CHDs.
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Affiliation(s)
- Yanji Qu
- Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China; Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha, Hunan, China
| | - Shao Lin
- Department of Environmental Health Sciences, University at Albany State University of New York, One University Place, Rensselaer, Albany, NY, USA; Department of Epidemiology and Biostatistics, University at Albany State University of New York, One University Place, Rensselaer, Albany, NY, USA.
| | - Michael S Bloom
- Department of Environmental Health Sciences, University at Albany State University of New York, One University Place, Rensselaer, Albany, NY, USA; Department of Epidemiology and Biostatistics, University at Albany State University of New York, One University Place, Rensselaer, Albany, NY, USA; Department of Global and Community Health, George Mason University, Fairfax, VA, USA.
| | - Ximeng Wang
- Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China
| | - Bo Ye
- Department of Epidemiology and Biostatistics, University at Albany State University of New York, One University Place, Rensselaer, Albany, NY, USA.
| | - Zhiqiang Nie
- Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China
| | - Yanqiu Ou
- Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China
| | - Jinzhuang Mai
- Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China
| | - Yong Wu
- Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China
| | - Xiangmin Gao
- Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China
| | - Xiaohua Xiao
- Boai Hospital of Zhongshan, 6 Chenggui Road, East District, Zhongshan, Guangdong, China
| | - Hongzhuan Tan
- Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha, Hunan, China.
| | - Xiaoqing Liu
- Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
| | - Jimei Chen
- Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China
| | - Jian Zhuang
- Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China
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Melov SJ, Shetty PS, Pasupathy D, Kirby A, Sholler GF, Winlaw DS, Alahakoon TI. Selective serotonin reuptake inhibitor or serotonin-norepinephrine reuptake inhibitors and epidemiological characteristics associated with prenatal diagnosis of congenital heart disease. Prenat Diagn 2020; 41:35-42. [PMID: 33067884 DOI: 10.1002/pd.5846] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/03/2020] [Revised: 09/12/2020] [Accepted: 10/13/2020] [Indexed: 12/18/2022]
Abstract
OBJECTIVE Identify early pregnancy associations of congenital heart disease (CHD) in a multiethnic cohort. METHODS This retrospective observational cohort study compared the general obstetric population to women who gave birth at a referral centre in Australia between 2012 and 2017, after 20 weeks' of gestation, with a pregnancy affected by CHD. We defined mood disorder and anxiety as a history of self-reported or medically diagnosed anxiety, depression, postpartum depression or bipolar disorder. RESULTS We compared epidemiological factors between 30 842 general obstetric patients and 470 obstetric patients with a foetus affected by CHD. Multivariate analysis showed independent associations between CHD and use of selective serotonin reuptake inhibitors (SSRIs) or serotonin-norepinephrine reuptake inhibitors (SNRIs) in the first trimester (relative risk [RR] 4.14, 95% CI 2.58-6.65), history of anxiety or mood disorder with no SSRI/SNRI first trimester (RR 2.20, 95% CI 1.77-2.74), folate and/or pregnancy multivitamin use in the first trimester (RR 0.69, 95% CI 0.55-0.87) and increased risk with maternal age >40 years (RR 2.30, 95% CI 1.57-3.38). CONCLUSIONS Our data show maternal mood disorders with and without SSRI or SNRI use, maternal age >40 years and lack of multivitamin/folate use to be independently associated with CHD in pregnancy.
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Affiliation(s)
- Sarah J Melov
- Westmead Institute for Maternal and Fetal Medicine, Women's and Newborn Health, Westmead Hospital, Westmead, New South Wales, Australia.,Discipline of Obstetrics Gynaecology and Neonatology, Westmead Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia
| | - Prayatna Singh Shetty
- Westmead Institute for Maternal and Fetal Medicine, Women's and Newborn Health, Westmead Hospital, Westmead, New South Wales, Australia
| | - Dharmintra Pasupathy
- Discipline of Obstetrics Gynaecology and Neonatology, Westmead Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.,Department of Women and Children's Health, School of Life Course Sciences, King's College, London, UK
| | - Adrienne Kirby
- Westmead Institute for Maternal and Fetal Medicine, Women's and Newborn Health, Westmead Hospital, Westmead, New South Wales, Australia.,NHMRC Clinical Trials Centre, The University of Sydney, Sydney, New South Wales, Australia
| | - Gary F Sholler
- Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.,The Heart Centre for Children, The Children's Hospital at Westmead, The Sydney Children's Hospital Network, Westmead, New South Wales, Australia
| | - David S Winlaw
- Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.,The Heart Centre for Children, The Children's Hospital at Westmead, The Sydney Children's Hospital Network, Westmead, New South Wales, Australia
| | - Thushari I Alahakoon
- Westmead Institute for Maternal and Fetal Medicine, Women's and Newborn Health, Westmead Hospital, Westmead, New South Wales, Australia.,Discipline of Obstetrics Gynaecology and Neonatology, Westmead Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia
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Lastivka IV, Pishak VP, Ryznychuk МО, Khmara ТV. Risk factor analysis for congenital heart defects in children. REGULATORY MECHANISMS IN BIOSYSTEMS 2020. [DOI: 10.15421/022080] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/05/2022] Open
Abstract
Congenital heart defects (CHDs) are the most common malformations, occurring in almost 1.0 in 100 births. We investigated an association between risk factors and CHDs, because epidemiological studies have reported conflicting results regarding risk factors and CHDs recently. The study of CHD frequency was conducted in Chernivtsi region (Northern Bukovina) on the basis of the medical genetic center. A retrospective method of research by studying registration genetic maps was used to analyze risk factors. 91 cards of infants suffering from CHD (47 boys and 44 girls) aged 0–1 living in the territory of Northern Bukovina were selected. In order to identify risk factors, 133 cards of healthy infants (77 boys and 56 girls) were used. The analysis of risk factors revealed that the female gender of a child is a risk factor for CHD development. The analysis of the ordinal number of pregnancy revealed that the second and the third pregnancies are probable risk factors for the development of this pathology. It was found in our study that folic acid intake during the first trimester prevented CHD development (OR 2.33). The study revealed that among stressful risk factors are: unplanned pregnancy (OR 3.13); out-of-wedlock pregnancy and stress during pregnancy. Maternal CHD increased the CHD development in offspring approximately by two times. Some factors, such as a woman doing hard physical work during pregnancy, having sedentary work during pregnancy, the mother being a housewife or having an incomplete secondary education (OR 3.61), the mother’s secondary education, the father’s incomplete secondary education (OR 18.62), the father serving in the army (OR 2.15) or being a student at the time of woman’s pregnancy (OR 2.97) were significant for CHD development in the fetal stage. A young age of the father (up to 43 years) was also considered as one of the risk factors. This article is expected to provide timely information on risk factors for CHD development to a wide range of medical staff, including pediatric and adult cardiologists, pediatricians, thoracic surgeons, obstetricians, gynecologists, medical geneticists, genetic counselors and other relevant clinicians.
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Parental non-hereditary teratogenic exposure factors on the occurrence of congenital heart disease in the offspring in the northeastern Sichuan, China. Sci Rep 2020; 10:3905. [PMID: 32127562 PMCID: PMC7054293 DOI: 10.1038/s41598-020-60798-6] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/17/2019] [Accepted: 02/14/2020] [Indexed: 11/09/2022] Open
Abstract
Nonhereditary factors play an important role in the occurrence of congenital heart disease (CHD). This study was to explore the possible parental nonhereditary exposure factors relevant to the occurrence of CHD in the northeastern Sichuan area. A total of 367 children with CHD and 367 children without congenital malformations aged 0 to 14 years old were recruited from the Affiliated Hospital of North Sichuan Medical College and Nanchong Central Hospital between March 2016 and November 2018. This study was designed as a case-control study with 1:1 frequency matching, in which the parents of cases and controls were interviewed with the same questionnaire according to the gestational age of the child, maternal age during pregnancy and the same maternal race/ethnicity. Then, 322 matched case-control pairs were analysed by SPSS 22. Thirty-one suspicious factors were entered into the binary logistic regression analysis after univariate regression analysis of 55 factors (alpha = 0.05). The analysis results showed that 7 factors were significantly associated with the occurrence of CHD. Thus, augmenting maternal mental healthcare, improving the quality of drinking water, obtaining adequate nutrition, maintaining a healthy physical condition during pregnancy, enhancing parents’ level of knowledge and maintaining a healthy lifestyle may lower the occurrence of CHD.
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Liang Y, Li X, Hu X, Wen B, Wang L, Wang C. A predictive model of offspring congenital heart disease based on maternal risk factors during pregnancy: a hospital based case-control study in Nanchong City. Int J Med Sci 2020; 17:3091-3097. [PMID: 33173430 PMCID: PMC7646101 DOI: 10.7150/ijms.48046] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/15/2020] [Accepted: 10/07/2020] [Indexed: 12/24/2022] Open
Abstract
Objective: Based on epidemiological field data, this study was to develop a prediction model which can be used as a preliminary screening tool to identify pregnant women who were at high risk of offspring congenital heart disease (CHD) in Nanchong City, and be beneficial in guiding prenatal management and prevention. Methods: A total of 367 children with CHD and 367 children without congenital malformations aged 0 to 14 years old were recruited from the Affiliated Hospital of North Sichuan Medical College and Nanchong Central Hospital between March 2016 and November 2018. Using the SPSS 22.0 case-control matching module, the controls were matched to the cases at a rate of 1:1, according to the same gestational age of child (premature delivery or full-term), the maternal age of pregnancy (less than 1 year). 327 matched case-control pairs were analyzed by SPSS 22. Univariate and multivariate analysis were performed to find the important maternal influencing factors of offspring CHD. A logistic regression disease prediction model was constructed as the final predictors, and Hosmer-Lemeshow goodness of fit test and receiver operating characteristic (ROC) curve were used to evaluate the model. Results: 654 subjects (327 cases and 327 controls) were matched. The 25 variables were analysed. The logistic regression model established in this study was as follows: Logit(P)= -2.871+(0.686×respiratory infections)+(1.176×water pollution)+(1.019×adverse emotions during pregnancy) - (0.617×nutrition supplementation). The Hosmer-Lemeshow chi-square value was 7.208 (df = 6), with a nonsignificant p value of 0.302, which indicates that the model was well-fitted. The calibration plot showed good agreement between the bias-corrected prediction and the ideal reference line. Area under the ROC curve was 0.72 (95% CI: 0.681~0.759), which means that the predictive power of the model set fitted the data. Conclusion: In Nanchong city, more attention should be paid to mother who had a history of respiratory infections, exposure to polluted water, adverse emotions during pregnancy and nutritional deficiency. The risk model might be an effective tool for predicting of the risk of CHD in offspring by maternal experience during pregnancy, which can be used for clinical practise in Nanchong area.
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Affiliation(s)
- Yun Liang
- Department of Pediatric Surgery, Affiliated Hospital of North Sichuan Medical College, Nanchong, 637000, P.R. China; The first affiliated Hospital of Jinan University, Guangzhou, 510632, P.R. China
| | - Xiaoqin Li
- Department of Nursing, Affiliated Hospital of North Sichuan Medical College, Nanchong, 637000, P.R. China
| | - Xingsheng Hu
- Department of Cardiology, Nanchong Central Hospital, Nanchong, 637000, P.R. China; Department of Oncology, the second Xiangya Hospital of Central South University Changsha, Yuelu District, 410011, P.R. China (Current Address)
| | - Bing Wen
- Department of Cardiothoracic Surgery, Nanchong Central Hospital, Nanchong, 637000, P.R. China
| | - Liang Wang
- Department of Pediatric Surgery, Affiliated Hospital of North Sichuan Medical College, Nanchong, 637000, P.R. China; The first affiliated Hospital of Jinan University, Guangzhou, 510632, P.R. China
| | - Cheng Wang
- Department of Pediatric Surgery, Affiliated Hospital of North Sichuan Medical College, Nanchong, 637000, P.R. China; The first affiliated Hospital of Jinan University, Guangzhou, 510632, P.R. China
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Xia YQ, Zhao KN, Zhao AD, Zhu JZ, Hong HF, Wang YL, Li SH. Associations of maternal upper respiratory tract infection/influenza during early pregnancy with congenital heart disease in offspring: evidence from a case-control study and meta-analysis. BMC Cardiovasc Disord 2019; 19:277. [PMID: 31791237 PMCID: PMC6889668 DOI: 10.1186/s12872-019-1206-0] [Citation(s) in RCA: 13] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/03/2019] [Accepted: 09/24/2019] [Indexed: 01/04/2023] Open
Abstract
Background Evidences regarding the associations between maternal upper respiratory tract infection/influenza during pregnancy and the risk of congenital heart disease (CHD) is still controversial. This study was specifically designed to examine the associations by a case-control study and a meta-analysis of the published evidences and our finding. Methods A hospital-based case-control study involving 262 children with simple CHD and 262 children with complex CHD, along with 262 control children, was conducted through June, 2016 to December, 2017. All children were aged 0–2 years old. Furthermore, a meta-analysis based on both previously published studies and our case-control study was performed. Results In the case-control study, after adjusting for possible confounders, maternal upper respiratory tract infection/influenza during early pregnancy was found to be related to an increased risk of CHD (OR = 3.40 and 95% CI: 2.05–5.62 for simple CHD; OR = 2.39 and 95% CI: 1.47–3.88 for complex CHD). After a meta-analysis, the adverse impact was still kept significant (OR = 1.47 and 95% CI: 1.28–1.67 for simple CHD; OR = 1.44 and 95% CI: 1.14–1.75 for complex CHD). The very similar associations were also observed among single type of CHD, herein, ventricular septal defects (VSD) and tetralogy of fallot (TOF) in the case-control study. In the subsequent meta-analysis, however, the significant association only existed in VSD. Conclusions Although there is still conflicting in TOF, the results are overall consistent, which provide new enforced evidence that maternal upper respiratory tract infection/influenza during early pregnancy, in general, play an important role in the occurrence of CHD.
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Affiliation(s)
- Y Q Xia
- School of Public Health, Shanghai Jiao Tong University, 227 South Chongqing Road, Huangpu District, Shanghai, 200025, China
| | - K N Zhao
- School of Public Health, Shanghai Jiao Tong University, 227 South Chongqing Road, Huangpu District, Shanghai, 200025, China
| | - A D Zhao
- School of Public Health, Shanghai Jiao Tong University, 227 South Chongqing Road, Huangpu District, Shanghai, 200025, China
| | - J Z Zhu
- China Hospital Development Institute, Shanghai Jiao Tong University, Shanghai, China
| | - H F Hong
- Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
| | - Y L Wang
- Prenatal Diagnosis Department, International Peace Maternity & Child Health Hospital, Shanghai Jiao Tong University School of Medicine, 910 Hengshan Road, Xuhui District, Shanghai, 200030, China.
| | - S H Li
- School of Public Health, Shanghai Jiao Tong University, 227 South Chongqing Road, Huangpu District, Shanghai, 200025, China.
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Lyu J, Zhao K, Xia Y, Zhao A, Yin Y, Hong H, Li S. Associations between maternal social support and stressful life event with ventricular septal defect in offspring: a case-control study. BMC Pregnancy Childbirth 2019; 19:429. [PMID: 31752736 PMCID: PMC6868846 DOI: 10.1186/s12884-019-2541-y] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/22/2019] [Accepted: 09/27/2019] [Indexed: 01/16/2023] Open
Abstract
Background Previous studies suggested that maternal subjective feeling of stress seemed to be involved in the incidence of congenial heart disease in offspring. To better understand the findings, our study would discuss the relationships of maternal exposure to stressful life event and social support, which are more objective and comprehensive indicators of stress, around periconceptional period with the risk of ventricular septal defect (VSD), the most popular subtype of congenital heart disease. Methods A hospital-based case-control study was conducted through June, 2016 to December, 2017. We collected maternal self-reports of 8 social support questions in 3 aspects and 8 stressful life events among mothers of 202 VSD cases and 262 controls. Social support was categorized into low, medium high, and high (higher is better), and stressful life event was indexed into low, medium low, and high (higher is worse). Logistic regression models were applied to estimate adjusted odds ratios and 95% confidence intervals (95% CI). Results The adjusted odds ratio of high stressful life event was 2.342 (95% CI: 1.348, 4.819) compared with low stressful life event. After crossover analysis, compared with low event & high support, the adjusted odds ratio of low event & low support, high event & high support, and high event & low support were 2.059 (95% CI: 1.104, 3.841), 2.699 (95% CI: 1.042, 6.988) and 2.781 (95% CI: 1.033, 7.489), respectively. Conclusions In summary, we observed an increased risk of VSD when pregnant women exposed to stressful life events, however, social support could, to some extent, reduce the risk of stressful life event.
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Affiliation(s)
- Jiajun Lyu
- School of Public Health, Shanghai Jiao Tong University School of Medicine, 227 South Chongqing Road, Huangpu District, Shanghai, 200025, China
| | - Kena Zhao
- School of Public Health, Shanghai Jiao Tong University School of Medicine, 227 South Chongqing Road, Huangpu District, Shanghai, 200025, China
| | - Yuanqing Xia
- School of Public Health, Shanghai Jiao Tong University School of Medicine, 227 South Chongqing Road, Huangpu District, Shanghai, 200025, China
| | - Anda Zhao
- School of Public Health, Shanghai Jiao Tong University School of Medicine, 227 South Chongqing Road, Huangpu District, Shanghai, 200025, China
| | - Yong Yin
- Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Pudong District, Shanghai, 200127, China
| | - Haifa Hong
- Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Pudong District, Shanghai, 200127, China.
| | - Shenghui Li
- School of Public Health, Shanghai Jiao Tong University School of Medicine, 227 South Chongqing Road, Huangpu District, Shanghai, 200025, China.
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Zhang S, Wang L, Yang T, Chen L, Zhao L, Wang T, Chen L, Ye Z, Zheng Z, Qin J. Parental alcohol consumption and the risk of congenital heart diseases in offspring: An updated systematic review and meta-analysis. Eur J Prev Cardiol 2019; 27:410-421. [PMID: 31578093 DOI: 10.1177/2047487319874530] [Citation(s) in RCA: 51] [Impact Index Per Article: 8.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/17/2022]
Abstract
OBJECTIVE The aim of this study was to provide updated evidence to assess the association between parental alcohol consumption and the risk of total congenital heart diseases (CHDs) and specific CHD phenotypes in offspring, and explore the possible dose-response pattern. METHODS PubMed, Embase and Chinese databases were searched with an end-date parameter of July 24, 2019 to identify studies meeting pre-stated inclusion criteria. A random-effects model was used to calculate the overall combined risk estimates. A meta-analysis of the dose-response relationship was performed. Subgroup analysis, sensitivity analysis, and Galbraith plot were conducted to explore potential heterogeneity moderators. RESULTS A total of 55 studies involving 41,747 CHD cases and 297,587 controls were identified. Overall, both maternal (odds ratio (OR) = 1.16; 95% confidence interval (CI): 1.05-1.27) and paternal (OR = 1.44; 95% CI: 1.19-1.74) alcohol exposures were significantly associated with risk of total CHDs in offspring. Additionally, a nonlinear dose-response relationship between parental alcohol exposure and risk of total CHDs was observed. With an increase in parental alcohol consumption, the risk of total CHDs in offspring also gradually increases. For specific CHD phenotypes, a statistically significant association was found between maternal alcohol consumption and risk of tetralogy of fallot (OR = 1.20; 95% CI: 1.08-1.33). Relevant heterogeneity moderators have been identified by subgroup analysis, and sensitivity analysis yielded consistent results. CONCLUSIONS Although the role of potential bias and evidence of heterogeneity should be carefully evaluated, our review indicates that parental alcohol exposures are significantly associated with the risk of CHDs in offspring, which highlights the necessity of improving health awareness to prevent alcohol exposure during preconception and conception periods.
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Affiliation(s)
- Senmao Zhang
- Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Hunan, China
| | - Lesan Wang
- Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Hunan, China
| | - Tubao Yang
- Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Hunan, China
| | - Lizhang Chen
- Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Hunan, China
| | - Lijuan Zhao
- Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Hunan, China
| | - Tingting Wang
- Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Hunan, China
| | - Letao Chen
- Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Hunan, China
| | - Ziwei Ye
- Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Hunan, China
| | - Zan Zheng
- Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Hunan, China
| | - Jiabi Qin
- Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Hunan, China
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Prakash S, Mattiotti A, Sylva M, Mulder BJM, Postma AV, van den Hoff MJB. Identifying pathogenic variants in the Follistatin-like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders. Mol Genet Genomic Med 2019; 7:e00567. [PMID: 30722102 PMCID: PMC6465659 DOI: 10.1002/mgg3.567] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/13/2018] [Revised: 12/10/2018] [Accepted: 12/13/2018] [Indexed: 12/22/2022] Open
Abstract
BACKGROUND Follistatin-like 1 (Fstl1) is a glycoprotein expressed throughout embryonic development. Homozygous loss of Fstl1 in mice results in skeletal and respiratory defects, leading to neonatal death due to a collapse of the trachea. Furthermore, Fstl1 conditional deletion from the endocardial/endothelial lineage results in postnatal death due to heart failure and profound atrioventricular valve defects. Here, we investigated patients with phenotypes similar to the phenotypes observed in the transgenic mice, for variants in FSTL1. METHODS In total, 69 genetically unresolved patients were selected with the following phenotypes: campomelic dysplasia (12), small patella syndrome (2), BILU (1), and congenital heart disease patients (54), of which 16 also had kyphoscoliosis, and 38 had valve abnormalities as their main diagnosis. Using qPCR, none of 69 patients showed copy number variations in FSTL1. The entire gene body, including microRNA-198 and three validated microRNA-binding sites, were analyzed using Sanger sequencing. RESULTS No variants were found in the coding region. However, 8 intronic variants were identified that differed significantly in their minor allele frequency compared to controls. Variant rs2272515 was found to significantly correlate (p < 0.05) with kyphoscoliosis. CONCLUSION We conclude that pathogenic variants in FSTL1 are unlikely to be responsible for skeletal or atrioventricular valve anomalies in humans.
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Affiliation(s)
- Stuti Prakash
- Department of Medical Biology, Amsterdam UMC, location AMC, Amsterdam, The Netherlands
| | - Andrea Mattiotti
- Department of Medical Biology, Amsterdam UMC, location AMC, Amsterdam, The Netherlands
| | - Marc Sylva
- Department of Medical Biology, Amsterdam UMC, location AMC, Amsterdam, The Netherlands
| | - Barbara J M Mulder
- Department of Cardiology, Amsterdam UMC, location AMC, Amsterdam, The Netherlands
| | - Alex V Postma
- Department of Medical Biology, Amsterdam UMC, location AMC, Amsterdam, The Netherlands.,Department of Clinical Genetics, Amsterdam UMC, location AMC, Amsterdam, The Netherlands
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Griesinger G, Blockeel C, Tournaye H. Oral dydrogesterone for luteal phase support in fresh in vitro fertilization cycles: a new standard? Fertil Steril 2018; 109:756-762. [PMID: 29778368 DOI: 10.1016/j.fertnstert.2018.03.034] [Citation(s) in RCA: 33] [Impact Index Per Article: 4.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/26/2018] [Revised: 03/19/2018] [Accepted: 03/20/2018] [Indexed: 01/20/2023]
Abstract
Oral dydrogesterone has been used for luteal phase support on an empirical basis since the early days of in vitro fertilization (IVF) treatment. Systematic comparisons of oral dydrogesterone with vaginal progesterone, so far considered to be the standard of care, started to appear in the middle 2000s. Recently, a large, randomized, double-blind, double-dummy phase III trial on the use of daily 30 mg oral dydrogesterone versus daily 600 mg micronized vaginal progesterone for LPS in IVF was published. This company-sponsored trial confirmed the efficacy findings from previous independent researchers and firmly established the noninferiority of daily 30 mg oral dydrogesterone for luteal phase support. Despite oral administration and first pass through the liver, dydrogesterone was as well tolerated as vaginal progesterone in safety analyses. Moreover, no new fetal safety concerns have arisen from that trial. Given the widespread preference of women for an oral compound, dydrogesterone may well become the new standard for luteal phase support in fresh embryo transfer IVF cycles.
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Affiliation(s)
- Georg Griesinger
- Department of Gynecological Endocrinology and Reproductive Medicine, University Hospital of Schleswig-Holstein, Luebeck, Germany.
| | - Christophe Blockeel
- Center for Reproductive Medicine, Universitair Ziekenhuis Brussel, Brussels, Belgium
| | - Herman Tournaye
- Center for Reproductive Medicine, Universitair Ziekenhuis Brussel, Brussels, Belgium
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Dydrogesterone: pharmacological profile and mechanism of action as luteal phase support in assisted reproduction. Reprod Biomed Online 2018; 38:249-259. [PMID: 30595525 DOI: 10.1016/j.rbmo.2018.11.017] [Citation(s) in RCA: 59] [Impact Index Per Article: 8.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/06/2018] [Revised: 08/15/2018] [Accepted: 11/07/2018] [Indexed: 12/29/2022]
Abstract
The pharmacological and physiological profiles of progestogens used for luteal phase support during assisted reproductive technology are likely to be important in guiding clinical choice towards the most appropriate treatment option. Various micronized progesterone formulations with differing pharmacological profiles have been investigated for several purposes. Dydrogesterone, a stereoisomer of progesterone, is available in an oral form with high oral bioavailability; it has been used to treat a variety of conditions related to progesterone deficiency since the 1960s and has recently been approved for luteal phase support as part of an assisted reproductive technology treatment. The primary objective of this review is to critically analyse the clinical implications of the pharmacological and physiological properties of dydrogesterone for its uses in luteal phase support and in early pregnancy.
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Ducsay CA, Goyal R, Pearce WJ, Wilson S, Hu XQ, Zhang L. Gestational Hypoxia and Developmental Plasticity. Physiol Rev 2018; 98:1241-1334. [PMID: 29717932 PMCID: PMC6088145 DOI: 10.1152/physrev.00043.2017] [Citation(s) in RCA: 112] [Impact Index Per Article: 16.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/05/2023] Open
Abstract
Hypoxia is one of the most common and severe challenges to the maintenance of homeostasis. Oxygen sensing is a property of all tissues, and the response to hypoxia is multidimensional involving complicated intracellular networks concerned with the transduction of hypoxia-induced responses. Of all the stresses to which the fetus and newborn infant are subjected, perhaps the most important and clinically relevant is that of hypoxia. Hypoxia during gestation impacts both the mother and fetal development through interactions with an individual's genetic traits acquired over multiple generations by natural selection and changes in gene expression patterns by altering the epigenetic code. Changes in the epigenome determine "genomic plasticity," i.e., the ability of genes to be differentially expressed according to environmental cues. The genomic plasticity defined by epigenomic mechanisms including DNA methylation, histone modifications, and noncoding RNAs during development is the mechanistic substrate for phenotypic programming that determines physiological response and risk for healthy or deleterious outcomes. This review explores the impact of gestational hypoxia on maternal health and fetal development, and epigenetic mechanisms of developmental plasticity with emphasis on the uteroplacental circulation, heart development, cerebral circulation, pulmonary development, and the hypothalamic-pituitary-adrenal axis and adipose tissue. The complex molecular and epigenetic interactions that may impact an individual's physiology and developmental programming of health and disease later in life are discussed.
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Affiliation(s)
- Charles A. Ducsay
- The Lawrence D. Longo, MD Center for Perinatal Biology, Department of Basic Sciences, Loma Linda University School of Medicine, Loma Linda, California
| | - Ravi Goyal
- The Lawrence D. Longo, MD Center for Perinatal Biology, Department of Basic Sciences, Loma Linda University School of Medicine, Loma Linda, California
| | - William J. Pearce
- The Lawrence D. Longo, MD Center for Perinatal Biology, Department of Basic Sciences, Loma Linda University School of Medicine, Loma Linda, California
| | - Sean Wilson
- The Lawrence D. Longo, MD Center for Perinatal Biology, Department of Basic Sciences, Loma Linda University School of Medicine, Loma Linda, California
| | - Xiang-Qun Hu
- The Lawrence D. Longo, MD Center for Perinatal Biology, Department of Basic Sciences, Loma Linda University School of Medicine, Loma Linda, California
| | - Lubo Zhang
- The Lawrence D. Longo, MD Center for Perinatal Biology, Department of Basic Sciences, Loma Linda University School of Medicine, Loma Linda, California
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Ma LG, Chen QH, Wang YY, Wang J, Ren ZP, Cao ZF, Cao YR, Ma X, Wang BB. Spatial pattern and variations in the prevalence of congenital heart disease in children aged 4-18 years in the Qinghai-Tibetan Plateau. THE SCIENCE OF THE TOTAL ENVIRONMENT 2018; 627:158-165. [PMID: 29426137 DOI: 10.1016/j.scitotenv.2018.01.194] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/19/2017] [Revised: 01/19/2018] [Accepted: 01/19/2018] [Indexed: 05/28/2023]
Abstract
PURPOSE This study aimed to investigate the spatial distribution pattern of the prevalence of congenital heart disease (CHD) in children in Qinghai-Tibetan Plateau (QTP), a high-altitude region in China. METHODS Epidemiological data from a survey on the prevalence of CHD in Qinghai Province including 288,066 children (4-18 years) were used in this study. The prevalence and distribution pattern of CHD was determined by sex, CHD subtype, and nationality and altitude. Spatial pattern analysis using Getis-Ord Gi⁎ was used to identify the spatial distribution of CHD. Bayesian spatial binomial regression was performed to examine the relationship between the prevalence of CHD and environmental risk factors in the QTP. RESULTS The prevalence of CHD showed a significant spatial clustering pattern. The Tibetan autonomous prefecture of Yushu (average altitude > 4000 m) and the Mongolian autonomous county of Henan (average altitude > 3600 m) in Huangnan had the highest prevalence of CHD. Univariate analysis showed that with ascending altitude, the total prevalence of CHD, that in girls and boys with CHD, and that of the subtypes PDA and ASD increasing accordingly. Thus, environmental factors greatly contributed to the prevalence of CHD. CONCLUSIONS The prevalence of CHD shows significant spatial clustering pattern in the QTP. The CHD subtype prevalence clustering pattern has statistical regularity which would provide convenient clues of environmental risk factors. Our results may provide support to make strategies of CHD prevention, to reduce the incidence of CHD in high altitude regions of China.
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Affiliation(s)
- Li-Guang Ma
- National Research Institute for Family Planning, Beijing 100081, PR China; Beijing GIStone Information Technology Co Ltd., Beijing 100101,PR China
| | - Qiu-Hong Chen
- Central Laboratory, Qinghai Cardiovascular Diseases Vocational Hospital, Xining, Qinghai 810012, PR China.
| | - Yuan-Yuan Wang
- National Research Institute for Family Planning, Beijing 100081, PR China
| | - Jing Wang
- Department of Medical Genetics and Developmental Biology, School of Medical Basic, Capital Medical University, Beijing 100069, PR China
| | - Zhou-Peng Ren
- State Key Laboratory of Resources and Environmental Information System, Institute of Geographical Sciences and Natural Resources Research, Chinese Academy of Sciences, Beijing 100101, PR China
| | - Zong-Fu Cao
- National Research Institute for Family Planning, Beijing 100081, PR China
| | - Yan-Rong Cao
- Beijing GIStone Information Technology Co Ltd., Beijing 100101,PR China
| | - Xu Ma
- National Research Institute for Family Planning, Beijing 100081, PR China; Peking Union Medical College, Beijing 100730, PR China.
| | - Bin-Bin Wang
- National Research Institute for Family Planning, Beijing 100081, PR China; Peking Union Medical College, Beijing 100730, PR China.
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Qin C, Li Y, Wang D, Shi Z, Yao R, Wang D, Tang S. Maternal factors and preoperative nutrition in children with mild cases of congenital heart disease. Jpn J Nurs Sci 2018; 16:37-46. [PMID: 29569860 DOI: 10.1111/jjns.12211] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/18/2017] [Revised: 10/19/2017] [Accepted: 01/24/2018] [Indexed: 01/14/2023]
Abstract
AIM The preoperative poor nutrition of children with congenital heart disease (CHD) impacts the postoperative rehabilitation process of pediatric CHD cases. The factors of these children's preoperative poor nutrition, excluding the disease, have been underreported. The aim was to investigate the preoperative nutritional status of children with CHD who required a simple surgical repair and to analyze the maternal characteristics that are associated with poor nutrition in these sick children. METHODS This was a cross-sectional survey. The weight and height of the children were measured, maternal data were collected via a questionnaire and a univariate analysis and multivariate logistic regression were used to analyze the association between maternal factors and the preoperative poor nutrition of the children with CHD. RESULTS A total of 119 children with simple CHD were recruited to the study. The prevalence of poor nutrition was higher in the children with CHD ("cases") than in the healthy children ("controls"). An increased risk of poor nutrition was associated with lower mothers' perception, education level, understanding of the disease, and higher anxiety. CONCLUSIONS Paying attention to maternal anxiety, depression, and knowledge and providing interventions for the mothers of children with CHD are important in order to promote the nutritional status of these children.
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Affiliation(s)
- Chunxiang Qin
- Obstetric Department, Third Xiangya Hospital, Xiangya School of Nursing, Third Xiangya Hospital, Central South University, Changsha, China
| | - Ying Li
- Neonatology Department, Third Xiangya Hospital, Central South University, Changsha, China
| | - Dianjun Wang
- Cardiac Surgery Department, Third Xiangya Hospital, Central South University, Changsha, China
| | - Zeya Shi
- Nursing Department, People's Hospital of Hunan Province, Changsha, China
| | - Rui Yao
- Psychological Counseling Center, Hunan University of Chinese Medicine, Changsha, China
| | - Dan Wang
- Genetics Department, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
| | - Siyuan Tang
- Xiangya School of Nursing, Central South University, Changsha, China
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Liu Y, Zhu B, Zhuo L, He MY, Xu Y, Wang TT, Cai QQ, Hu B, Xu JC, Zhang WH. [Risk factors for congenital heart disease in Chinese neonates: a Meta analysis]. ZHONGGUO DANG DAI ER KE ZA ZHI = CHINESE JOURNAL OF CONTEMPORARY PEDIATRICS 2017; 19:754-758. [PMID: 28697826 PMCID: PMC7389917] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Subscribe] [Scholar Register] [Received: 02/13/2017] [Accepted: 04/26/2017] [Indexed: 11/12/2023]
Abstract
OBJECTIVE To investigate the major risk factors for congenital heart disease (CHD) in Chinese neonates and to provide a reference for the prevention of CHD. METHODS A literature search was performed to collect the case-control studies on the risk factors for CHD in Chinese neonates published in 2001-2016. The relevant data were extracted accordingly. The quality of included studies was assessed by Newcastle-Ottawa Scale. Sensitivity analysis was conducted using different models to analyze the same data. The publication bias was assessed by Egger's test. RESULTS A total of 17 case-control studies involving 2 930 cases and 4 952 controls were included. The Meta analysis showed that the major risk factors for CHD in Chinese neonates were as follows: mother with advanced age (OR=2.649, 95%CI: 1.675-4.189), cold or fever (OR=4.558, 95%CI: 2.901-7.162), medication use in early pregnancy (OR=3.961, 95%CI: 2.816-5.573), passive smoking (OR=2.766, 95%CI: 1.982-3.859), abnormal childbearing history (OR=2.992, 95%CI: 1.529-5.856), noise exposure (OR=3.030, 95%CI: 1.476-6.217), radiation exposure (OR=2.363, 95%CI: 1.212-4.607), decoration (OR=4.979, 95%CI: 3.240-7.653), gestational diabetes (OR=5.090, 95%CI: 3.132-8.274), and pet raising (OR=2.048, 95%CI: 1.385-3.029). CONCLUSIONS Mothers with advanced age, cold or fever, medication use in early pregnancy, passive smoking, abnormal childbearing history, noise exposure, radiation exposure, decoration, gestational diabetes, and pet raising may increase the risk of CHD in Chinese neonates.
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Affiliation(s)
- Yi Liu
- School of Public Health of Xuzhou Medical University, Xuzhou, Jiangsu 221004, China.
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Liu Y, Zhu B, Zhuo L, He MY, Xu Y, Wang TT, Cai QQ, Hu B, Xu JC, Zhang WH. [Risk factors for congenital heart disease in Chinese neonates: a Meta analysis]. ZHONGGUO DANG DAI ER KE ZA ZHI = CHINESE JOURNAL OF CONTEMPORARY PEDIATRICS 2017; 19:754-758. [PMID: 28697826 PMCID: PMC7389917 DOI: 10.7499/j.issn.1008-8830.2017.07.005] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Subscribe] [Scholar Register] [Received: 02/13/2017] [Accepted: 04/26/2017] [Indexed: 06/07/2023]
Abstract
OBJECTIVE To investigate the major risk factors for congenital heart disease (CHD) in Chinese neonates and to provide a reference for the prevention of CHD. METHODS A literature search was performed to collect the case-control studies on the risk factors for CHD in Chinese neonates published in 2001-2016. The relevant data were extracted accordingly. The quality of included studies was assessed by Newcastle-Ottawa Scale. Sensitivity analysis was conducted using different models to analyze the same data. The publication bias was assessed by Egger's test. RESULTS A total of 17 case-control studies involving 2 930 cases and 4 952 controls were included. The Meta analysis showed that the major risk factors for CHD in Chinese neonates were as follows: mother with advanced age (OR=2.649, 95%CI: 1.675-4.189), cold or fever (OR=4.558, 95%CI: 2.901-7.162), medication use in early pregnancy (OR=3.961, 95%CI: 2.816-5.573), passive smoking (OR=2.766, 95%CI: 1.982-3.859), abnormal childbearing history (OR=2.992, 95%CI: 1.529-5.856), noise exposure (OR=3.030, 95%CI: 1.476-6.217), radiation exposure (OR=2.363, 95%CI: 1.212-4.607), decoration (OR=4.979, 95%CI: 3.240-7.653), gestational diabetes (OR=5.090, 95%CI: 3.132-8.274), and pet raising (OR=2.048, 95%CI: 1.385-3.029). CONCLUSIONS Mothers with advanced age, cold or fever, medication use in early pregnancy, passive smoking, abnormal childbearing history, noise exposure, radiation exposure, decoration, gestational diabetes, and pet raising may increase the risk of CHD in Chinese neonates.
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Affiliation(s)
- Yi Liu
- School of Public Health of Xuzhou Medical University, Xuzhou, Jiangsu 221004, China.
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Luo Y, Li Z, Guo H, Cao H, Song C, Guo X, Zhang Y. Predicting congenital heart defects: A comparison of three data mining methods. PLoS One 2017; 12:e0177811. [PMID: 28542318 PMCID: PMC5443514 DOI: 10.1371/journal.pone.0177811] [Citation(s) in RCA: 27] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/16/2016] [Accepted: 05/03/2017] [Indexed: 12/28/2022] Open
Abstract
Congenital heart defects (CHD) is one of the most common birth defects in China. Many studies have examined risk factors for CHD, but their predictive abilities have not been evaluated. In particular, few studies have attempted to predict risks of CHD from, necessarily unbalanced, population-based cross-sectional data. Therefore, we developed and validated machine learning models for predicting, before and during pregnancy, women’s risks of bearing children with CHD. We compared the results of these models in a large-scale, comprehensive population-based retrospective cross-sectional epidemiological survey of birth defects in six counties in Shanxi Province, China, covering 2006 to 2008. This contained 78 cases of CHD among 33831 live births. We constructed nine synthetic variables to use in the models: maternal age, annual per capita income, family history, maternal history of illness, nutrition and folic acid deficiency, maternal illness in pregnancy, medication use in pregnancy, environmental risk factors in pregnancy, and unhealthy maternal lifestyle in pregnancy. The machine learning algorithms Weighted Support Vector Machine (WSVM) and Weighted Random Forest (WRF) were trained on, and a logistic regression (Logit) was fitted to, two-thirds of the data. Their predictive abilities were then tested in the remaining data. True positive rate (TPR), true negative rate (TNR), accuracy (ACC), area under the curves (AUC), G-means, and Weighted accuracy (WTacc) were used to compare the classification performance of the models. Median values, from repeating the data partitioning 1000 times, were used in all comparisons. The TPR and TNR of the three classifiers were above 0.65 and 0.93, respectively, better than any reported in the literature. TPR, wtACC, AUC and G were highest for WSVM, showing that it performed best. All three models are precise enough to identify groups at high risk of CHD. They should all be considered for future investigations of other birth defects and diseases.
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Affiliation(s)
- Yanhong Luo
- Department of Health Statistics, School of Public Health, Shanxi Medical University, Taiyuan, Shanxi Province, People’s Republic of China
| | - Zhi Li
- Department of Health Statistics, School of Public Health, Shanxi Medical University, Taiyuan, Shanxi Province, People’s Republic of China
| | - Husheng Guo
- School of Computer and Information Technology, Shanxi University, Taiyuan, Shanxi Province, People’s Republic of China
| | - Hongyan Cao
- Department of Health Statistics, School of Public Health, Shanxi Medical University, Taiyuan, Shanxi Province, People’s Republic of China
| | - Chunying Song
- Population and Family planning Commission of Shanxi province, Taiyuan, Shanxi Province, People’s Republic of China
| | - Xingping Guo
- Population and Family planning Commission of Shanxi province, Taiyuan, Shanxi Province, People’s Republic of China
| | - Yanbo Zhang
- Department of Health Statistics, School of Public Health, Shanxi Medical University, Taiyuan, Shanxi Province, People’s Republic of China
- * E-mail:
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Zhang D, Cui H, Zhang L, Huang Y, Zhu J, Li X. Is maternal smoking during pregnancy associated with an increased risk of congenital heart defects among offspring? A systematic review and meta-analysis of observational studies. J Matern Fetal Neonatal Med 2017; 30:645-657. [PMID: 27126055 DOI: 10.1080/14767058.2016.1183640] [Citation(s) in RCA: 27] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/08/2016] [Accepted: 04/25/2016] [Indexed: 12/28/2022]
Abstract
OBJECTIVE To investigate the association between maternal smoking during pregnancy and risk of congenital heart defects (CHDs) among offspring. METHODS PubMed, EMBASE, and Web of Science were searched for eligible studies. The outcomes of interest included risk of any CHD and nine subtypes. We summarized study characteristics and used a random-effects model in meta-analysis, and a two-stage dose-response model was utilized to assess the association between smoking consumption and risk. Statistical heterogeneity was assessed by a chi-squared test of the Cochrane Q statistic and I-squared value. Publication bias was assessed by funnel plots and Egger's test, and trim and fill method was utilized when publication bias existed. RESULTS Forty-three observational epidemiologic studies were included. The pooled risk ratio (RR) of any CHD was 1.11 (95% CI: 1.04, 1.18), but it exhibited substantial statistical heterogeneity (p < 0.001, I2 = 69.0%). In sensitivity analysis, we observed significant associations for atrial septal defect (ASD) and marginally significant associations for septal defects (SPD). The two-stage dose-response analysis showed evidence to support that higher levels of tobacco smoke was associated with an increased risk of septal defects, particularly for ASD and VSD (ventricular septal defect). CONCLUSION Our study presents evidence to support the cardiovascular teratogenic effect of maternal smoking during pregnancy, and their offspring may suffer from approximately a 10% relative increase in the risk of CHDs on average.
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Affiliation(s)
- Dongyu Zhang
- a Department of Epidemiology , University of North Carolina at Chapel Hill Gillings School of Global Public Health , Chapel Hill , NC , USA
| | - Hao Cui
- b Department of Health , Zhuhai Maternity and Child Health Hospital , Zhuhai , Guangdong , China
| | | | - Yanjie Huang
- d Department of Health Policy and Management , Johns Hopkins University Bloomberg School of Public Health , Baltimore , MD , USA
| | - Jun Zhu
- e National Office for Maternal and Child Health Surveillance of China, West China Second Hospital, Sichuan University , Chengdu , Sichuan , China , and
| | - Xiaohong Li
- f National Center for Birth Defects Monitoring of China, West China Second Hospital, Sichuan University , Chengdu , Sichuan , China
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Li H, Luo M, Zheng J, Luo J, Zeng R, Feng N, Du Q, Fang J. An artificial neural network prediction model of congenital heart disease based on risk factors: A hospital-based case-control study. Medicine (Baltimore) 2017; 96:e6090. [PMID: 28178169 PMCID: PMC5313026 DOI: 10.1097/md.0000000000006090] [Citation(s) in RCA: 54] [Impact Index Per Article: 6.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/07/2023] Open
Abstract
An artificial neural network (ANN) model was developed to predict the risks of congenital heart disease (CHD) in pregnant women.This hospital-based case-control study involved 119 CHD cases and 239 controls all recruited from birth defect surveillance hospitals in Hunan Province between July 2013 and June 2014. All subjects were interviewed face-to-face to fill in a questionnaire that covered 36 CHD-related variables. The 358 subjects were randomly divided into a training set and a testing set at the ratio of 85:15. The training set was used to identify the significant predictors of CHD by univariate logistic regression analyses and develop a standard feed-forward back-propagation neural network (BPNN) model for the prediction of CHD. The testing set was used to test and evaluate the performance of the ANN model. Univariate logistic regression analyses were performed on SPSS 18.0. The ANN models were developed on Matlab 7.1.The univariate logistic regression identified 15 predictors that were significantly associated with CHD, including education level (odds ratio = 0.55), gravidity (1.95), parity (2.01), history of abnormal reproduction (2.49), family history of CHD (5.23), maternal chronic disease (4.19), maternal upper respiratory tract infection (2.08), environmental pollution around maternal dwelling place (3.63), maternal exposure to occupational hazards (3.53), maternal mental stress (2.48), paternal chronic disease (4.87), paternal exposure to occupational hazards (2.51), intake of vegetable/fruit (0.45), intake of fish/shrimp/meat/egg (0.59), and intake of milk/soymilk (0.55). After many trials, we selected a 3-layer BPNN model with 15, 12, and 1 neuron in the input, hidden, and output layers, respectively, as the best prediction model. The prediction model has accuracies of 0.91 and 0.86 on the training and testing sets, respectively. The sensitivity, specificity, and Yuden Index on the testing set (training set) are 0.78 (0.83), 0.90 (0.95), and 0.68 (0.78), respectively. The areas under the receiver operating curve on the testing and training sets are 0.87 and 0.97, respectively.This study suggests that the BPNN model could be used to predict the risk of CHD in individuals. This model should be further improved by large-sample-size research.
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Affiliation(s)
- Huixia Li
- Department of Child Health Care, Hunan Provincial Maternal and Child Health Care Hospital
- Department of Maternal and Child Health, Xiangya School of Public Health, Central South University, Changsha, Hunan Province, China
| | - Miyang Luo
- Department of Epidemiology, Saw Swee Hock School of Public Health, National University of Singapore, Singapore
| | - Jianfei Zheng
- Department of Emergency and Intensive Care Medicine, The Second Xiangya Hospital
| | - Jiayou Luo
- Department of Maternal and Child Health, Xiangya School of Public Health, Central South University, Changsha, Hunan Province, China
| | - Rong Zeng
- Department of Pharmacy, Xiangya Hospital, Central South University, Changsha, Hunan Province, China
| | - Na Feng
- Department of Child Health Care, Hunan Provincial Maternal and Child Health Care Hospital
| | - Qiyun Du
- Department of Child Health Care, Hunan Provincial Maternal and Child Health Care Hospital
| | - Junqun Fang
- Department of Child Health Care, Hunan Provincial Maternal and Child Health Care Hospital
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de Araújo JSS, Regis CT, Gomes RGS, Mourato FA, Mattos SDS. Impact of Telemedicine in the Screening for Congenital Heart Disease in a Center from Northeast Brazil. J Trop Pediatr 2016; 62:471-476. [PMID: 27273306 DOI: 10.1093/tropej/fmw033] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/12/2022]
Abstract
OBJECTIVES To describe the incidence of congenital heart disease before and after the establishment of a telemedicine screening program, in a reference center from Northeast Brazil. METHODS This is a descriptive, retrospective and comparative study based on the institutional data from a reference center in perinatology for a period of 16 years. Institutional data were collected from a 16-year period (2001-15). Data were divided into two periods: prior to (2001-11) and after (2012-15) the establishment of a telemedicine screening program. RESULTS After the implementation of the screening process, almost all kinds of heart disease showed a significant increase in their incidence (p < 0.05). With this, the incidence of major heart diseases approached those specified in developed regions. CONCLUSION The implementation of a screening process model for congenital heart diseases can change the context of patients with congenital heart diseases in poor regions.
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Affiliation(s)
| | - Cláudio Teixeira Regis
- Círculo Do Coração De Pernambuco, Recife, Pernambuco, Brazil.,Instituto Cândida Vargas, João Pessoa, Paraíba, Brazil
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Nicoletti D, Appel LD, Siedersberger Neto P, Guimarães GW, Zhang L. Maternal smoking during pregnancy and birth defects in children: a systematic review with meta-analysis. CAD SAUDE PUBLICA 2016; 30:2491-529. [PMID: 26247979 DOI: 10.1590/0102-311x00115813] [Citation(s) in RCA: 23] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/15/2013] [Accepted: 08/18/2014] [Indexed: 11/22/2022] Open
Abstract
This systematic review aimed to investigate the association between maternal smoking during pregnancy and birth defects in children. We performed an electronic search of observational studies in the databases ovid MEDLINE (1950 to April 2010), LILACS and SciELO. We included 188 studies with a total of 13,564,914 participants (192,655 cases). Significant positive associations were found between maternal smoking and birth defects in the following body systems: cardiovascular (OR: 1.11; 95%CI: 1.03-1.19), digestive (OR: 1.18; 95%CI: 1.07-1.30), musculoskeletal (OR: 1.27; 95%CI: 1.16-1.39) and face and neck (OR: 1.28; 95%CI: 1.19-1.37). The strength of association between maternal smoking and birth defects measured by the OR (95%CI) is significantly related to the amount of cigarettes smoked daily (χ2 = 12.1; df = 2; p = 0.002). In conclusion, maternal smoking during pregnancy is associated with congenital malformations in children and this association is dose-dependent.
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Affiliation(s)
- Dilvania Nicoletti
- Faculdade de Medicina, Universidade Federal do Rio Grande, Rio Grande, Brazil
| | | | | | | | - Linjie Zhang
- Faculdade de Medicina, Universidade Federal do Rio Grande, Rio Grande, Brazil
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Liu Z, Lin Y, Tian X, Li J, Chen X, Yang J, Li X, Deng Y, Li N, Liang J, Li S, Zhu J. Association between maternal aluminum exposure and the risk of congenital heart defects in offspring. BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY 2016; 106:95-103. [PMID: 26707789 DOI: 10.1002/bdra.23464] [Citation(s) in RCA: 25] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/15/2022]
Abstract
BACKGROUND Aluminum (Al) is the third most common element in the earth' s crust and has been reported to be teratogenic. However, there is lack of understanding about the association between maternal aluminum exposure and the risks of birth defects such as congenital heart defects (CHDs). METHODS A multi-center, hospital-based case-control study was performed at four maternal and child tertiary hospitals in China. A total of 223 cases with CHDs and 223 controls without any abnormalities were recruited according to the inclusion and matching criteria. Hair samples were prepared and measured by inductively coupled plasma mass spectrometry (ICP-MS). The correlation between CHDs and maternal aluminum concentrations was estimated by a 1:1 conditional logistic regression. RESULTS The geometric mean and median of hair aluminum levels in isolated or multiple CHD cases was significantly higher than in controls (p < 0.05). A significant association was found between increased hair aluminum concentrations and the risk of total CHDs in offspring (adjusted odds ration [aOR], 2.32; 95% confidence interval [CI], 1.72-3.13), especially in some subtypes of CHDs, such as septal defects (aOR, 2.17; 95% CI, 1.15-4.10), conotruncal defects (aOR, 5.42; 95%CI, 2.43-12.10), and right ventricular outflow track obstruction (aOR, 2.43; 95% CI, 1.08-5.44). However, there was no statistically significant association with left ventricular outflow track obstruction (aOR, 1.66; 95% CI, 0.95-2.88). CONCLUSION A high maternal aluminum concentration may significantly increase the risk of delivering a child with a CHD, such as a septal defect, conotruncal heart defect and right-side obstruction.
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Affiliation(s)
- Zhen Liu
- National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China
- Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China
| | - Yuan Lin
- Department of Obstetrics & Gynecology, Fujian Provincial Maternal and Child Healthcare Hospital, Fuzhou, Fujian, China
| | - Xiaoxian Tian
- Department of Ultrasound, Maternal and Child Healthcare Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China
| | - Jun Li
- Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, China
| | - Xinlin Chen
- Department of Ultrasound, Hubei Provincial Maternal and Child Healthcare Hospital, Wuhan, Hubei, China
| | - Jiaxiang Yang
- Department of Ultrasound, Sichuan Provincial Maternal and Child Healthcare Hospital, Chengdu, Sichuan, China
| | - Xiaohong Li
- National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China
| | - Ying Deng
- National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China
- Department of Obstetrics & Gynecology, Fujian Provincial Maternal and Child Healthcare Hospital, Fuzhou, Fujian, China
| | - Nana Li
- National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China
- Department of Obstetrics & Gynecology, Fujian Provincial Maternal and Child Healthcare Hospital, Fuzhou, Fujian, China
| | - Juan Liang
- National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China
| | - Shengli Li
- Department of Ultrasound, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China
| | - Jun Zhu
- National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China
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Impact of a Virtual Clinic in a Paediatric Cardiology Network on Northeast Brazil. Int J Telemed Appl 2015; 2015:504015. [PMID: 26265913 PMCID: PMC4523681 DOI: 10.1155/2015/504015] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/15/2015] [Revised: 06/29/2015] [Accepted: 07/02/2015] [Indexed: 01/03/2023] Open
Abstract
Introduction. Congenital heart diseases (CHD) affect approximately 1% of live births and is an important cause of neonatal morbidity and mortality. Despite that, there is a shortage of paediatric cardiologists in Brazil, mainly in the northern and northeastern regions. In this context, the implementation of virtual outpatient clinics with the aid of different telemedicine resources may help in the care of children with heart defects. Methods. Patients under 18 years of age treated in virtual outpatient clinics between January 2013 and May 2014 were selected. They were divided into 2 groups: those who had and those who had not undergone a screening process for CHD in the neonatal period. Clinical and demographic characteristics were collected for further statistical analysis. Results. A total of 653 children and teenagers were treated in the virtual outpatient clinics. From these, 229 had undergone a neonatal screening process. Fewer abnormalities were observed on the physical examination of the screened patients. Conclusion. The implementation of pediatric cardiology virtual outpatient clinics can have a positive impact in the care provided to people in areas with lack of skilled professionals.
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Feng Y, Wang S, Zhao L, Yu D, Hu L, Mo X. Maternal reproductive history and the risk of congenital heart defects in offspring: a systematic review and meta-analysis. Pediatr Cardiol 2015; 36:253-63. [PMID: 25500695 DOI: 10.1007/s00246-014-1079-z] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/30/2014] [Accepted: 12/05/2014] [Indexed: 01/09/2023]
Abstract
Epidemiological studies have reported conflicting results on the association of congenital heart defect (CHD) risk in offspring with a maternal history of prior pregnancies and abortions, but no meta-analysis has been reported. We searched MEDLINE and EMBASE from their inception to April 14, 2014, for relevant studies that assessed the association between maternal reproductive history and CHD risk. Two authors independently assessed eligibility and extracted data. Fixed-effects or random-effects models were used to calculate the pooled odds ratios (ORs). Among 1,599 references, 17 case-control studies and one nested case-control study were included in this meta-analysis. The summary OR for the ever versus nulligravidity was 1.18 (95% CI 1.03-1.34). A dose-response analysis also indicated a positive effect of maternal gravidity on CHD risk, and the summary OR for each increment in number of pregnancies was 1.13 (95% CI 1.08-1.18). A history of abortion was associated with a 24% higher risk of CHD, OR = 1.24 (95% CI 1.11-1.38). When stratified by abortion category, CHD risk increased by 18 and 58% with a history of spontaneous abortion and induced abortion, respectively. The summary OR for each increment of one abortion was 1.28 (95% CI 1.18-1.40). In summary, this study provides evidence that increased maternal gravidity was positively associated with a risk of CHDs in offspring. Meanwhile, our results demonstrate a positive association of any history of abortion with an increased risk of CHDs.
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Affiliation(s)
- Yu Feng
- Department of Cardiothoracic Surgery, The Affiliated Children's Hospital of Nanjing Medical University, 72 Guangzhou Rd, Nanjing, 210008, Jiangsu, People's Republic of China
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Feng Y, Yu D, Yang L, Da M, Wang Z, Lin Y, Ni B, Wang S, Mo X. Maternal lifestyle factors in pregnancy and congenital heart defects in offspring: review of the current evidence. Ital J Pediatr 2014; 40:85. [PMID: 25385357 PMCID: PMC4243331 DOI: 10.1186/s13052-014-0085-3] [Citation(s) in RCA: 27] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/22/2014] [Accepted: 10/17/2014] [Indexed: 02/01/2023] Open
Abstract
The prognosis of children with congenital heart defects(CHDs) continues to improve with advancing surgical techniques; however, lack of information about modifiable risk factors for malformations in cardiovascular development impeded the prevention of CHDs. We investigated an association between maternal lifestyle factors and the risk of CHDs, because epidemiological studies have reported conflicting results regarding maternal lifestyle factors and the risk of CHDs recently. A review published on 2007 provided a summary of maternal exposures associated with an increased risk of CHDs. As part of noninherited risk factors, we conducted a brief overview of studies on the evidence linking common maternal lifestyle factors, specifically smoking, alcohol, illicit drugs, caffeine, body mass index and psychological factors to the development of CHDs in offspring. Women who smoke and have an excessive body mass index(BMI) during pregnancy are suspected to be associated with CHDs in offspring. Our findings could cause public health policy makers to pay more attention to women at risk and could be used in the development of population-based prevention strategies to reduce the incidence and burden of CHDs. However, more prospective studies are needed to investigate the association between maternal lifestyle factors and CHDs.
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Affiliation(s)
- Yu Feng
- Department of Cardiothoracic Surgery, The Affiliated Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, P.R. China.
| | - Di Yu
- Department of Cardiothoracic Surgery, The Affiliated Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, P.R. China.
| | - Lei Yang
- Department of Cardiothoracic Surgery, The Affiliated Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, P.R. China.
| | - Min Da
- Department of Cardiothoracic Surgery, The Affiliated Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, P.R. China.
| | - Zhiqi Wang
- Department of Cardiothoracic Surgery, The Affiliated Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, P.R. China.
| | - Yuan Lin
- Department of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Cancer Center, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, P.R. China.
| | - Bixian Ni
- Department of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Cancer Center, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, P.R. China.
| | - Song Wang
- Department of Cardiothoracic Surgery, The Affiliated Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, P.R. China.
| | - Xuming Mo
- Department of Cardiothoracic Surgery, The Affiliated Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, P.R. China.
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Maternal socioeconomic status and the risk of congenital heart defects in offspring: a meta-analysis of 33 studies. PLoS One 2014; 9:e111056. [PMID: 25347676 PMCID: PMC4210244 DOI: 10.1371/journal.pone.0111056] [Citation(s) in RCA: 43] [Impact Index Per Article: 3.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/18/2014] [Accepted: 09/17/2014] [Indexed: 01/12/2023] Open
Abstract
Background We conducted this meta-analysis to address the open question of a possible association between maternal socioeconomic status and congenital heart defects (CHDs). Methods We searched MEDLINE and EMBASE from their inception to January 1, 2014 for case-control and cohort studies that assessed the association between maternal socioeconomic status and the risk of CHDs. Study-specific relative risk estimates were polled according to random-effect or fixed-effect models. Results From 3343 references, a total of 31 case-control studies and 2 cohort studies were enrolled in this meta-analysis, including more than 50,000 cases. We observed that maternal educational attainment, family income and maternal occupation were negatively associated with an 11% (pooled RR = 1.11, 95% CI: 1.03, 1.21), 5% (pooled RR = 1.05, 95% CI: 1.01, 1.09) and 51% (pooled RR = 1.51, 95% CI: 1.02, 2.24) increased risk of CHDs, respectively. In a subgroup analysis by geographic region, the results were inconsistent for the European region (RR = 1.29, 95% CI: 0.99–1.69) and USA/Canada region (RR = 1.06, 95% CI: 0.97, 1.16) in maternal educational attainment. Conclusion In summary, this meta-analysis suggests that a lower degree of maternal socioeconomic status is modestly associated with an increased risk of CHDs. However, further investigations are needed to confirm the association.
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Ma LG, Zhao J, Ren ZP, Wang YY, Peng ZQ, Wang JF, Ma X. Spatial patterns of the congenital heart disease prevalence among 0- to 14-year-old children in Sichuan Basin, P. R China, from 2004 to 2009. BMC Public Health 2014; 14:595. [PMID: 24924350 PMCID: PMC4073187 DOI: 10.1186/1471-2458-14-595] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/15/2013] [Accepted: 05/15/2014] [Indexed: 01/21/2023] Open
Abstract
Background Congenital heart disease (CHD) is the most common type of major birth defects in Sichuan, the most populous province in China. The detailed etiology of CHD is unknown but some environmental factors are suspected as the cause of this disease. However, the geographical variations in CHD prevalence would be highly valuable in providing a clue on the role of the environment in CHD etiology. Here, we investigate the spatial patterns and geographic differences in CHD prevalence among 0- to 14-year-old children, discuss the possible environmental risk factors that might be associated with CHD prevalence in Sichuan Basin from 2004 to 2009. Methods The hierarchical Bayesian model was used to estimate CHD prevalence at the township level. Spatial autocorrelation statistics were performed, and a hot-spot analysis with different distance thresholds was used to identify the spatial pattern of CHD prevalence. Distribution and clustering maps were drawn using geographic information system tools. Results CHD prevalence was significantly clustered in Sichuan Basin in different spatial scale. Typical hot/cold clusters were identified, and possible CHD causes were discussed. The association between selected hypothetical environmental factors of maternal exposure and CHD prevalence was evaluated. Conclusions The largest hot-spot clustering phenomena and the CHD prevalence clustering trend among 0- to 14-year-old children in the study area showed a plausibly close similarity with those observed in the Tuojiang River Basin. The high ecological risk of heavy metal(Cd, As, and Pb)sediments in the middle and lower streams of the Tuojiang River watershed and ammonia–nitrogen pollution may have contribution to the high prevalence of CHD in this area.
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Affiliation(s)
| | | | | | | | | | | | - Xu Ma
- National Research Institute for Family Planning, Beijing 100081, People's Republic of China.
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Patel SS, Burns TL. Nongenetic risk factors and congenital heart defects. Pediatr Cardiol 2013; 34:1535-55. [PMID: 23963188 DOI: 10.1007/s00246-013-0775-4] [Citation(s) in RCA: 82] [Impact Index Per Article: 6.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/14/2013] [Accepted: 07/31/2013] [Indexed: 11/25/2022]
Abstract
Advances have been made in identifying genetic etiologies of congenital heart defects. Through this knowledge, preventive strategies have been designed and instituted, and prospective parents are counseled regarding their risk of having an affected child. Great strides have been made in genetic variant identification, and genetic susceptibility to environmental exposures has been hypothesized as an etiology for congenital heart defects. Unfortunately, similar advances in understanding have not been made regarding strategies to prevent nongenetic risk factors. Less information is available regarding the potential adverse effect of modifiable risk factors on the fetal heart. This review summarizes the available literature on these modifiable exposures that may alter the risk for congenital heart disease. Information regarding paternal characteristics and conditions, maternal therapeutic drug exposures, parental nontherapeutic drug exposures, and parental environmental exposures are presented. Factors are presented in terms of risk for congenital heart defects as a group. These factors also are broken down by specific defect type. Although additional investigations are needed in this area, many of the discussed risk factors present an opportunity for prevention of potential disease.
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Affiliation(s)
- Sonali S Patel
- Department of Pediatrics, Division of Pediatric Cardiology, Carver College of Medicine, University of Iowa, Children's Hospital, 200 Hawkins Drive, Iowa City, IA, 52242, USA,
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Liu Z, Li X, Li N, Li S, Deng K, Lin Y, Chen X, You F, Li J, Mu D, Wang Y, Zhu J. Association between maternal exposure to housing renovation and offspring with congenital heart disease: a multi-hospital case-control study. Environ Health 2013; 12:25. [PMID: 23522351 PMCID: PMC3639153 DOI: 10.1186/1476-069x-12-25] [Citation(s) in RCA: 24] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/13/2012] [Accepted: 03/19/2013] [Indexed: 05/12/2023]
Abstract
BACKGROUND Congenital heart disease (CHD) is one of the most prevalent birth defects. Housing renovations are a newly recognized source of indoor environmental pollution that is detrimental to health. A growing body of research suggests that maternal occupational exposure to renovation materials may be associated with an increased risk of giving birth to fetuses with CHD. However, the effect of indoor housing renovation exposure on CHD occurrence has not been reported. METHODS A multi-hospital case-control study was designed to investigate the association between maternal periconceptional housing renovation exposure and the risk of CHD for offspring. In total, 346 cases and 408 controls were enrolled in this study from four hospitals in China. Exposure information was based on a questionnaire given to women during pregnancy. The association between housing renovation exposure and CHD occurrence was assessed by estimating odds ratios (OR) with logistic regression models adjusted for potential confounders. RESULTS The risk for CHD in offspring was significantly associated with maternal exposure to housing renovations (AOR: 1.89, 95% CI: 1.29-2.77). There were similar risks for cardiac defects with or without extra-cardiac malformation (AOR of 2.65 and 1.76, respectively). Maternal housing renovation exposure may increase the fetus' risk of suffering from conotruncal defect or anomalous venous return. There were significant risks for cardiac defects if the pregnant woman moved into a new house within one month after decoration at either 3 months before pregnancy (AOR: 2.38, 95% CI: 1.03 to 5.48) or during first trimester (AOR: 4.00, 95% CI: 1.62 to 9.86). CONCLUSIONS Maternal exposure to housing renovations may have an increased risk of giving birth to fetuses with some selected types of CHD. This relationship was stronger for women who moved into a newly decorated house. However, considering the limited number of subjects and the problem of multiple exposures, more research is needed to clarify the effects seen here.
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Affiliation(s)
- Zhen Liu
- National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Sec.3 No.17, South RenMin Road, Chengdu, Sichuan, China
- Laboratory of Molecular Epidemiology for birth defect, West China Institute of Women and Children's Health, Sichuan University, Chengdu, China
| | - Xiaohong Li
- National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Sec.3 No.17, South RenMin Road, Chengdu, Sichuan, China
| | - Nana Li
- Laboratory of Molecular Epidemiology for birth defect, West China Institute of Women and Children's Health, Sichuan University, Chengdu, China
| | - Shengli Li
- Department of Ultrasound, Shenzhen Maternity & Child Healthcare Hospital, Affiliated to Southern Medical University, Shenzhen, China
| | - Kui Deng
- National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Sec.3 No.17, South RenMin Road, Chengdu, Sichuan, China
| | - Yuan Lin
- Department of Obstetrics & Gynecology, Fujian provincial Maternal and Child Healthcare Hospital, Fuzhou, China
| | - Xinlin Chen
- Department of Ultrasound, Hubei provincial Maternal and Child Healthcare Hospital, Wuhan, China
| | - Fengzhi You
- Department of women sanitation, Henan provincial Maternal and Child Healthcare Hospital, Zhengzhou, China
| | - Jun Li
- Department of Ultrasonic Diagnosis, Xijing Hospital, Fourth Military Medical University, Xi’an, China
| | - Dezhi Mu
- Department of Pediatric, West China Second University Hospital, Sichuan University, Chengdu, China
| | - Yanping Wang
- National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Sec.3 No.17, South RenMin Road, Chengdu, Sichuan, China
| | - Jun Zhu
- National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Sec.3 No.17, South RenMin Road, Chengdu, Sichuan, China
- Laboratory of Molecular Epidemiology for birth defect, West China Institute of Women and Children's Health, Sichuan University, Chengdu, China
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Naghavi-Behzad M, Alizadeh M, Azami S, Foroughifar S, Ghasempour-Dabbaghi K, Karzad N, Ahadi HR, Naghavi-Behzad A. Risk Factors of Congenital Heart Diseases: A Case-Control Study inNorthwest Iran. J Cardiovasc Thorac Res 2013; 5:5-9. [PMID: 24251002 DOI: 10.5681/jcvtr.2013.002] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/24/2012] [Accepted: 03/13/2013] [Indexed: 11/17/2022] Open
Abstract
INTRODUCTION Congenital heart diseases are of immense importance and also a high prevalence. Contributing factors to developing these defects have not been abundantly studied. Therefore, the current study was conducted aiming at determining the effective factors on Congenital Heart Disease (CHD) in newborn infants of Northwest Iran. METHODS A case-control study was carried out in North-West of Iran from 2002 to 2012 and a total of 473 infants entered the study. Required data were obtained through check lists completed by the information of hospital records and interview with mothers of 267 newborn infants with CHD together with medical records of mothers as the case group, and 206 medical records of healthy infants at the same period all together with those of their mothers as the control group. The obtained data were statistically analyzed using descriptive statistical methods, T-test, Spearman's correlation coefficient, and Multi-variable Logistic Regression Model (OR with 95% CI), using SPSS.19. In the present study, P value less than 0.05 was considered statistically significant. RESULTS Based on the results of univariable analyses, the number of previous cesarean sections, past medical history of diseases, gestational age (GA), fetal weight at birth, diastolic blood pressure, fetal heart rate, pulse rate, fetal hemoglobin and hematocrit levels, and fetal head circumference at birth have significant relationship with incidence of congenital abnormalities (P<0.05). Family history, past cesarean sections history, past medical history and GA had significant relationship with CHD incidence. CONCLUSION Based on the results of present study, in order to control and reduce the cases of CHD, it is crucial to make proper decisions and implement policies for reducing cesarean cases, lowering consanguineous marriages, providing proper pre-marriage counseling, prompt treatment of mothers' illnesses, improving pregnancy health care and mothers' health status for the purpose of better well-being of newborn infants.
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Lee LJ, Lupo PJ. Maternal smoking during pregnancy and the risk of congenital heart defects in offspring: a systematic review and metaanalysis. Pediatr Cardiol 2013; 34:398-407. [PMID: 22886364 DOI: 10.1007/s00246-012-0470-x] [Citation(s) in RCA: 81] [Impact Index Per Article: 6.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/15/2012] [Accepted: 07/19/2012] [Indexed: 11/28/2022]
Abstract
Although a previous metaanalysis indicated that maternal smoking during pregnancy increased the risk of congenital heart defects (CHD) in offspring, the effect of smoking on individual CHD subtypes was not determined. Because CHDs are anatomically, clinically, epidemiologically, and developmentally heterogeneous, the authors conducted a systematic review and metaanalysis of the association between maternal smoking during pregnancy and the risk of CHDs, including CHD subtypes among offspring. Two types of summary relative risk (RR) estimates (any smoking vs no smoking and increasing categories of smoking, i.e., light, medium, and heavy) were calculated for CHDs as a group and for a number of CHD subtypes using both fixed- and random-effects models. Random effects estimates were reported if there was evidence of heterogeneity among the studies. Consistent with the previous metaanalysis, the authors observed a positive association between maternal smoking during pregnancy and the risk of CHDs as a group (RR, 1.11; 95 % confidence interval [CI], 1.02-1.21; number of cases [n] = 18,282). Additionally, women who smoked during pregnancy were more likely to have a child with 12 (71 %) of 17 CHD subtypes analyzed compared with women who did not smoke. The highest risk was for septal defects as a group (RR, 1.44; 95 % CI, 1.16-1.79; n = 2977). The evidence of dose response was observed for septal defects as a group, atrial septal defects, and atrioventricular septal defects. This systematic review and metaanalysis suggests that maternal smoking is modestly associated with an increased risk of CHDs and some CHD subtypes.
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Affiliation(s)
- Laura J Lee
- Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, TX, USA.
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Xuan C, Wang BB, Gao G, Bai XY, Yang Q, Liu XC, Jing WB, Ma X, He GW. A novel variation of PLAGL1 in Chinese patients with isolated ventricular septal defect. Genet Test Mol Biomarkers 2012; 16:984-987. [PMID: 22784302 PMCID: PMC3422556 DOI: 10.1089/gtmb.2012.0003] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/18/2023] Open
Abstract
AIMS Ventricular septal defect (VSD) is the most common congenital heart disease (CHD). A number of genetic studies have linked the gene of PLAGL1 to the etiology of CHD. The present study aimed to identify potential pathogenic mutations for PLAGL1 and to provide insights into the etiology of isolated VSD. METHODS Case-control mutational analysis was performed in 300 patients with isolated VSD and 300 healthy controls. Two protein-coding extons of PLAGL1 and their partial flanking intron sequences were amplified by polymerase chain reaction and sequenced on an ABI3730 Automated Sequencer. CLC workbench software was used to compare the conservatism of PLAGL1 protein with other multiple species. RESULTS Neither missense nor frame-shift mutations were detected in two protein-coding extons of PLAGL1. But a novel synonymous variation (c.486A>G, p. E162E) was detected in protein-coding exon-2. The glutamic that translated with the mutational codon is conservative when compared with other species. CONCLUSIONS We detected a synonymous variation in the protein-coding exon-2 of PLAGL1 in isolated VSD patients. It is possible that the etiology of isolated VSD might not be directly linked with this mutation, but might be associated with other patterns of gene expression regulation in PLAGL1, such as in the methylation-dependent manner.
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Affiliation(s)
- Chao Xuan
- TEDA International Cardiovascular Hospital, Medical College, Nankai University, Tianjin, PR China
| | - Bin-Bin Wang
- Center for Genetics, National Research Institute for Family Planning, Beijing, PR China
| | - Ge Gao
- TEDA International Cardiovascular Hospital, Medical College, Nankai University, Tianjin, PR China
| | - Xiao-Yan Bai
- TEDA International Cardiovascular Hospital, Medical College, Nankai University, Tianjin, PR China
| | - Qin Yang
- TEDA International Cardiovascular Hospital, Medical College, Nankai University, Tianjin, PR China
- The Chinese University of Hong Kong, Hong Kong, PR China
| | - Xiao-Cheng Liu
- TEDA International Cardiovascular Hospital, Medical College, Nankai University, Tianjin, PR China
| | - Wen-Bin Jing
- TEDA International Cardiovascular Hospital, Medical College, Nankai University, Tianjin, PR China
| | - Xu Ma
- Center for Genetics, National Research Institute for Family Planning, Beijing, PR China
| | - Guo-Wei He
- TEDA International Cardiovascular Hospital, Medical College, Nankai University, Tianjin, PR China
- Department of Surgery, Oregon Health and Science University, Portland, Oregon
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