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Wang X, Zhang S, Wang J, Zhang S, Feng L, Wu Q. Follow-up outcome analysis of 324 cases of early-onset and late-onset mild fetal ventriculomegaly: a retrospective cohort study. Eur J Med Res 2024; 29:128. [PMID: 38365795 PMCID: PMC10870476 DOI: 10.1186/s40001-024-01709-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/11/2023] [Accepted: 02/01/2024] [Indexed: 02/18/2024] Open
Abstract
BACKGROUND Mild fetal ventriculomegaly (VM) is a nonspecific finding common to several pathologies with varying prognosis and is, therefore, a challenge in fetal consultation. We aimed to perform a constant, detailed analysis of prenatal findings and postnatal outcomes in fetuses with early-onset and late-onset mild ventriculomegaly, and provide a new evidence basis and new perspective for prenatal counseling. METHODS This is a retrospective cohort study of women with a diagnosis of mild fetal VM between January 2018 and October 2020. The population was divided into two groups according to the gestational ages (GAs) at initial diagnosis: the early-onset group (diagnosed at/before 24+6 weeks) and the late-onset group (diagnosed after 24+6 weeks). Clinical data and pregnancy outcomes were obtained from hospital records. The children's neurodevelopment status was assessed using the Ages and Stages Questionnaire, Third Edition (ASQ-3) and telephone interviews. RESULTS Our study cohort comprised 324 fetuses, out of which 94 (29%) were classified as early-onset group and 230 (71%) late-onset group. Early-onset group was more likely to have concurrent additional abnormalities, whereas in the late-onset group, isolated enlargement was more common (P = 0.01). Unilateral enlargement was more common in the late-onset group (P = 0.05), and symmetrical enlargement in the early-onset group (P < 0.01). In addition, early-onset mild VM cases were more likely to have intrauterine progression (P = 0.03), and many had a higher proportion of complex multisystem abnormalities. Compared with the late-onset group, the early-onset group was more often associated with congenital brain structure malformations. Approximately 11% of fetuses with mild VM had postnatal neurodevelopmental delay/disorders, and the risk was higher in the early-onset group (19.4% vs. 7.4%). Regression analysis showed that the GA at first diagnosis, non-isolated, and intrauterine progression significantly correlated with neurodevelopmental abnormalities. CONCLUSIONS Early-onset and late-onset mild VM had significantly different ultrasound features and outcomes. Early-onset mild VM may have more complex potential abnormalities and are more likely to predict poor prognosis than the late-onset.
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Affiliation(s)
- Xuemei Wang
- Ultrasound Department, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, No.251 Yaojiayuan Road, Chaoyang District, Beijing, 100026, People's Republic of China
- Ultrasound Department, The Second Affiliated Hospital of Shandong First Medical University, 271000, Taian, Shandong, People's Republic of China
| | - Shanlong Zhang
- Ultrasound Department, The Second Affiliated Hospital of Shandong First Medical University, 271000, Taian, Shandong, People's Republic of China
| | - Jingjing Wang
- Ultrasound Department, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, No.251 Yaojiayuan Road, Chaoyang District, Beijing, 100026, People's Republic of China
| | - Simin Zhang
- Ultrasound Department, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, No.251 Yaojiayuan Road, Chaoyang District, Beijing, 100026, People's Republic of China
| | - Li Feng
- Ultrasound Department, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, No.251 Yaojiayuan Road, Chaoyang District, Beijing, 100026, People's Republic of China
| | - Qingqing Wu
- Ultrasound Department, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, No.251 Yaojiayuan Road, Chaoyang District, Beijing, 100026, People's Republic of China.
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Horgos B, Mecea M, Boer A, Buruiana A, Ciortea R, Mihu CM, Florian IS, Florian AI, Stamatian F, Szabo B, Albu C, Susman S, Pascalau R. White matter changes in fetal brains with ventriculomegaly. Front Neuroanat 2023; 17:1160742. [PMID: 37389403 PMCID: PMC10303118 DOI: 10.3389/fnana.2023.1160742] [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: 02/07/2023] [Accepted: 05/10/2023] [Indexed: 07/01/2023] Open
Abstract
Introduction Ventriculomegaly (VM) is a fetal brain malformation which may present independently (isolated form) or in association with different cerebral malformations, genetic syndromes or other pathologies (non-isolated form). Methods This paper aims to study the effect of ventriculomegaly on the internal tridimensional architecture of fetal brains by way of Klingler's dissection. Ventriculomegaly was diagnosed using fetal ultrasonography during pregnancy and subsequently confirmed by necropsy. Taking into consideration the diameter of the lateral ventricle (measured at the level of the atrium), the brains were divided into two groups: moderate ventriculomegaly (with atrial diameter between 13 and 15 mm) and severe ventriculomegaly (with atrial diameter above 15 mm). Results and discussion The results of each dissection were described and illustrated, then compared with age-matched reference brains. In the pathological brains, fascicles in direct contact with the enlarged ventricles were found to be thinner and displaced inferiorly, the opening of the uncinate fasciculus was wider, the fornix was no longer in contact with the corpus callosum and the convexity of the corpus callosum was inverted. We have studied the prevalence of neurodevelopmental delay in children born with ventriculomegaly in the literature and discovered that a normal developmental outcome was found in over 90% of the mild VM cases, approximately 75% of the moderate and 60% in severe VM, with the correlated neurological impairments ranging from attention deficits to psychiatric disorders.
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Affiliation(s)
- Bianca Horgos
- Faculty of Medicine, “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania
| | - Miruna Mecea
- Faculty of Medicine, “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania
| | - Armand Boer
- Faculty of Medicine, “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania
| | - Andrei Buruiana
- Department of Oncology, “Ion Chiricuţă” Institute of Oncology, Cluj-Napoca, Romania
| | - Razvan Ciortea
- Department of Obstetrics and Gynecology, “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania
- Department of Obstetrics and Gynecology, Emergency County Hospital, Cluj-Napoca, Romania
| | - Carmen-Mihaela Mihu
- Department of Morphological Sciences—Histology, “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania
| | - Ioan Stefan Florian
- Department of Neuroscience—Neurosurgery, “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania
- Department of Neurosurgery, Emergency County Hospital, Cluj-Napoca, Romania
| | - Alexandru Ioan Florian
- Department of Neuroscience—Neurosurgery, “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania
- Department of Neurosurgery, Emergency County Hospital, Cluj-Napoca, Romania
| | - Florin Stamatian
- Department of Obstetrics and Gynecology, IMOGEN Centre of Advanced Research Studies, Cluj-Napoca, Romania
| | - Bianca Szabo
- Department of Morphological Sciences—Anatomy and Embryology, “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania
| | - Camelia Albu
- Department of Morphological Sciences—Pathology, “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania
- Department of Pathology, IMOGEN Centre of Advanced Research Studies, Emergency County Hospital, Cluj-Napoca, Romania
| | - Sergiu Susman
- Department of Morphological Sciences—Histology, “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania
- Department of Pathology, IMOGEN Centre of Advanced Research Studies, Emergency County Hospital, Cluj-Napoca, Romania
| | - Raluca Pascalau
- Department of Ophthalmology, Emergency County Hospital, Cluj-Napoca, Romania
- Research and Development Institute, Transilvania University of Brasov, Brasov, Romania
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Ece B, Aydın S, Kantarci M. Antenatal imaging: A pictorial review. World J Clin Cases 2022; 10:12854-12874. [PMID: 36569012 PMCID: PMC9782949 DOI: 10.12998/wjcc.v10.i35.12854] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/28/2022] [Revised: 10/17/2022] [Accepted: 11/28/2022] [Indexed: 12/14/2022] Open
Abstract
Today, in parallel with the use of imaging modalities increases in all fields, the use of imaging methods in pregnant women is increasing. Imaging has become an integral component of routine pregnancy follow-up. Imaging provides parents with an early opportunity to learn about the current situation, including prenatal detection of anomalies or diseases, etiology, prognosis, and the availability of prenatal or postnatal treatments. Various imaging modalities, especially ultrasonography, are frequently used for imaging both maternal and fetal imaging. The goal of this review was to address imaging modalities in terms of usefulness and safety, as well as to provide demonstrative examples for disorders. And this review provides current information on selecting a safe imaging modality to evaluate the pregnant and the fetus, the safety of contrast medium use, and summarizes major pathological situations with demonstrative sonographic images to assist radiologists and obstetricians in everyday practice.
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Affiliation(s)
- Bunyamin Ece
- Department of Radiology, Kastamonu University, Kastamonu 37150, Turkey
| | - Sonay Aydın
- Department of Radiology, Erzincan University, Erzincan 24142, Turkey
| | - Mecit Kantarci
- Department of Radiology, Erzincan University, Erzincan 24142, Turkey
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Ryan GA, Start AO, Cathcart B, Hughes H, Denona B, Higgins S, Corcoran S, Walsh J, Carroll S, Mahony R, Crimmins D, Caird J, Robinson I, Colleran G, McParland P, McAuliffe FM. Prenatal findings and associated survival rates in fetal ventriculomegaly: A prospective observational study. Int J Gynaecol Obstet 2022; 159:891-897. [PMID: 35373343 PMCID: PMC9790218 DOI: 10.1002/ijgo.14206] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/13/2021] [Revised: 03/22/2022] [Accepted: 03/28/2022] [Indexed: 12/30/2022]
Abstract
OBJECTIVES Fetal ventriculomegaly is associated with varying degrees of genetic and structural abnormalities. The objective was to present the experience of fetal ventriculomegaly in a large European center in relation to: 1. grade of ventriculomegaly; 2. additional chromosomal/structural abnormalities; and 3. perinatal survival rates. METHODS This was a prospective observational study of patients referred with fetal ventriculomegaly from January 2011 to July 2020. Data were obtained from the hospital database and analyzed to determine the rate of isolated ventriculomegaly, associated structural abnormalities, chromosomal/genetic abnormalities, and survival rates. Data were stratified into three groups; mild (Vp = 10-12 mm), moderate (Vp = 13-15 mm) and severe (Vp > 15 mm) ventriculomegaly. RESULTS There were 213 fetuses included for analysis. Of these 42.7% had mild ventriculomegaly, 44.6% severe and 12.7% had moderate ventriculomegaly. Initial ultrasound assessment reported isolated ventriculomegaly in 45.5% fetuses, with additional structural abnormalities in 54.5%. The rate of chromosomal/genetic abnormalities was high,16.4%. After all investigations, the true rate of isolated VM was 36.1%. The overall survival was 85.6%. Survival was higher for those with isolated VM across all groups (P < 0.05). CONCLUSION Ventriculomegaly is a complex condition and patients should be counselled that even with apparently isolated VM, there remains the possibility of additional genetic and/or structural problems being diagnosed in up to 10% of fetuses.
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Affiliation(s)
- Gillian A. Ryan
- UCD Perinatal Research CentreUniversity College Dublin, The National Maternity HospitalDublinIreland,Fetal Medicine DepartmentThe National Maternity HospitalDublinIreland
| | - Alexander O. Start
- UCD Perinatal Research CentreUniversity College Dublin, The National Maternity HospitalDublinIreland,Fetal Medicine DepartmentThe National Maternity HospitalDublinIreland
| | - Barbara Cathcart
- Fetal Medicine DepartmentThe National Maternity HospitalDublinIreland
| | - Heather Hughes
- Fetal Medicine DepartmentThe National Maternity HospitalDublinIreland
| | | | - Shane Higgins
- UCD Perinatal Research CentreUniversity College Dublin, The National Maternity HospitalDublinIreland,Fetal Medicine DepartmentThe National Maternity HospitalDublinIreland
| | - Siobhan Corcoran
- UCD Perinatal Research CentreUniversity College Dublin, The National Maternity HospitalDublinIreland,Fetal Medicine DepartmentThe National Maternity HospitalDublinIreland
| | - Jennifer Walsh
- UCD Perinatal Research CentreUniversity College Dublin, The National Maternity HospitalDublinIreland,Fetal Medicine DepartmentThe National Maternity HospitalDublinIreland
| | - Stephen Carroll
- Fetal Medicine DepartmentThe National Maternity HospitalDublinIreland
| | - Rhona Mahony
- Fetal Medicine DepartmentThe National Maternity HospitalDublinIreland
| | - Darach Crimmins
- Neurosurgery DepartmentChildren's University HospitalDublinIreland,UCD School of MedicineUniversity College DublinIreland
| | - John Caird
- Neurosurgery DepartmentChildren's University HospitalDublinIreland
| | - Ian Robinson
- Radiology DepartmentThe National Maternity HospitalDublinIreland
| | - Gabrielle Colleran
- UCD School of MedicineUniversity College DublinIreland,Radiology DepartmentThe National Maternity HospitalDublinIreland
| | - Peter McParland
- UCD Perinatal Research CentreUniversity College Dublin, The National Maternity HospitalDublinIreland,Fetal Medicine DepartmentThe National Maternity HospitalDublinIreland
| | - Fionnuala M. McAuliffe
- UCD Perinatal Research CentreUniversity College Dublin, The National Maternity HospitalDublinIreland,Fetal Medicine DepartmentThe National Maternity HospitalDublinIreland
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Guo D, He D, Shen Q, Lin N, He S, Dai Y, Li Y, Xu L, Wu X. Comprehensive Assessment of Fetal Bilateral Ventriculomegaly Based on Genetic Disorders, Cytomegalovirus Infection, Extra Prenatal Imaging and Pregnancy Outcomes in a Tertiary Referral Center. Int J Gen Med 2021; 14:7719-7728. [PMID: 34764685 PMCID: PMC8577530 DOI: 10.2147/ijgm.s335011] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/19/2021] [Accepted: 10/11/2021] [Indexed: 11/23/2022] Open
Abstract
Objective This retrospective study aimed to systematically evaluate the genetic disorders, cytomegalovirus (CMV) infection, extra ultrasound findings and outcomes of fetuses with bilateral ventriculomegaly (BVM). Methods Data from pregnancies with fetal BVM were obtained between 2014 and 2020. The cases were divided into groups of isolated bilateral ventriculomegaly (IBVM) and non-isolated bilateral ventriculomegaly (NIBVM) according to the presence of extra prenatal imaging. Subgroups of mild, moderate, and severe were determined according to lateral ventricle widths. The NIBVM group was further classified into pregnancies with soft markers, non-structural abnormalities, and structural abnormalities. Results A total of 353 pregnancies were enrolled, including 153 cases of IBVM and 200 cases of NIBVM. Conventional karyotyping was performed on 192 samples, and 15 cases of numerical abnormalities and 3 cases of unbalanced structural abnormalities were identified. Chromosomal microarray analysis (CMA) was concurrently performed on 108 of them and revealed additional 5 cases (4.7%) of copy number variants with clinical significance. CMV DNA testing was performed on 154 of the 192 cases that underwent invasive prenatal diagnosis, and a positive result was found in 2 (1.3%) cases. In the IBVM group, the percentage of favorable prognosis in the mild, moderate and severe pregnancies were 94.4%, 79.2%, and 4.8%, respectively, and the termination of pregnancy (TOP) rates were 4.6%, 20.8%, and 85.7%, respectively. In both the mild and moderate NIBVM, the TOP rates progressively increased and the favorable prognosis survival rates progressively decreased relative to the soft markers, non-structural abnormalities, and structural abnormalities, respectively. Approximately 94.1% of severe NIBVM ended in termination. Conclusion Genetic disorders and fetal infection are important etiology of BVM. CMA is highly recommended for genetic disorders’ evaluation. Pregnancies with severe BVM always ended in TOP, while in mild-to-moderate NIBVM, prenatal imaging by ultrasound and/or MRI plays important roles in the pregnancy outcomes.
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Affiliation(s)
- Danhua Guo
- Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, People's Republic of China
| | - Deqin He
- Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, People's Republic of China
| | - Qingmei Shen
- Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, People's Republic of China
| | - Na Lin
- Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, People's Republic of China
| | - Shuqiong He
- Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, People's Republic of China
| | - Yifang Dai
- Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, People's Republic of China
| | - Ying Li
- Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, People's Republic of China
| | - Liangpu Xu
- Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, People's Republic of China
| | - Xiaoqing Wu
- Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, People's Republic of China.,Department of Laboratory Medicine, Fujian Medical University, Fuzhou, 350002, Fujian, People's Republic of China
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Cai M, Huang H, Xu L, Lin N. Classifying and Evaluating Fetuses With Ventriculomegaly in Genetic Etiologic Studies. Front Genet 2021; 12:682707. [PMID: 34285689 PMCID: PMC8286336 DOI: 10.3389/fgene.2021.682707] [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: 04/01/2021] [Accepted: 05/11/2021] [Indexed: 11/26/2022] Open
Abstract
The association between genetics and fetuses with ventriculomegaly (VM) is unknown. This study aimed to classify and evaluate abnormal copy number variations (CNVs) in fetuses with VM. From December 2016 to September 2020, amniotic fluid or umbilical cord blood from 293 pregnant women carrying fetuses with VM was extracted for single-nucleotide polymorphism microarray (SNP array). Among 293 fetuses with VM, 31 were detected with abnormal CNVs, including 22 with pathogenic CNVs (7.51%) and nine with variation of uncertain clinical significance (VUS) CNVs (3.07%). Of the 22 fetuses with pathogenic CNVs, 13 had known disease syndromes. Among the 293 fetuses, 133 had mild isolated VM [pathogenic CNVs, 7/133 (5.26%)]; 142 had mild non-isolated VM [pathogenic CNVs, 13/142 (9.15%)]; 12 had severe isolated VM [pathogenic CNVs, 2/12 (16.67%)]; and six had severe non-isolated VM (no abnormal CNVs was detected). There was no statistical significance in the rate of pathogenic CNVs among the four groups (P = 0.326, P > 0.05). Among the 267 fetuses with successful follow-up, 38 were terminated (of these, 21 had pathogenic CNVs). Of the 229 fetuses, two had developmental delay and the remaining 227 had a good prognosis after birth. Overall, the results are useful for the detection of fetal microdeletion/microduplication syndrome and for the accurate assessment of fetal prognosis in prenatal consultation.
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Affiliation(s)
- Meiying Cai
- Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China
| | - Hailong Huang
- Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China
| | - Liangpu Xu
- Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China
| | - Na Lin
- Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China
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Mirsky DM, Stence NV, Powers AM, Dingman AL, Neuberger I. Imaging of fetal ventriculomegaly. Pediatr Radiol 2020; 50:1948-1958. [PMID: 33252761 DOI: 10.1007/s00247-020-04880-1] [Citation(s) in RCA: 13] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/20/2020] [Revised: 08/18/2020] [Accepted: 10/08/2020] [Indexed: 11/25/2022]
Abstract
Fetal ventriculomegaly is the most common central nervous system abnormality detected by prenatal imaging. It has a high association with other anomalies. Etiologies and prognoses for fetal ventriculomegaly range from normal outcomes to significant neurodevelopmental sequelae. In this paper, we review the development, terminology, pathogenesis, imaging and prognosis of fetal ventriculomegaly.
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Affiliation(s)
- David M Mirsky
- Department of Radiology, Children's Hospital Colorado, University of Colorado School of Medicine, 13123 East 16th Ave., Box B125, Aurora, CO, 80045, USA.
| | - Nicholas V Stence
- Department of Radiology, Children's Hospital Colorado, University of Colorado School of Medicine, 13123 East 16th Ave., Box B125, Aurora, CO, 80045, USA
| | - Andria M Powers
- Department of Radiology, Children's Hospital Colorado, University of Colorado School of Medicine, 13123 East 16th Ave., Box B125, Aurora, CO, 80045, USA
| | - Andra L Dingman
- Division of Child Neurology, Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA
| | - Ilana Neuberger
- Department of Radiology, Children's Hospital Colorado, University of Colorado School of Medicine, 13123 East 16th Ave., Box B125, Aurora, CO, 80045, USA
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AIUM Practice Parameter for the Performance of Detailed Second- and Third-Trimester Diagnostic Obstetric Ultrasound Examinations. JOURNAL OF ULTRASOUND IN MEDICINE : OFFICIAL JOURNAL OF THE AMERICAN INSTITUTE OF ULTRASOUND IN MEDICINE 2019; 38:3093-3100. [PMID: 31736130 DOI: 10.1002/jum.15163] [Citation(s) in RCA: 59] [Impact Index Per Article: 9.8] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/10/2023]
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Yi JL, Zhang W, Meng DH, Ren LJ, Yu J, Wei YL. Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital. J Int Med Res 2019; 47:5508-5517. [PMID: 31422728 PMCID: PMC6862921 DOI: 10.1177/0300060519853405] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/27/2018] [Accepted: 05/07/2019] [Indexed: 11/16/2022] Open
Abstract
Objective To evaluate the efficiency and incremental value of chromosomal microarray analysis as compared with standard karyotyping for the identification of genomic abnormalities in fetal DNA. Methods This retrospective study enrolled female patients with ultrasonographically diagnosed fetal ventriculomegaly. The prevalence, associated anomalies and clinical outcomes of ventriculomegaly were evaluated based on data from a single maternal and child health hospital in southwest China. Results A total of 943 cases of ventriculomegaly were analysed in this study, which were diagnosed at a mean ± SD gestational age of 23.8 ± 8.2 weeks. Non-isolated ventriculomegaly cases had a significantly higher maternal age than isolated cases (29.6 ± 5.5 versus 27.9 ± 4.2 years, respectively) and were also associated with a larger proportion of bilateral (56.1% versus 46.7%, respectively) and severe (12.8% versus 3.7%, respectively) ventriculomegaly. There were 97 cases detected by both karyotyping and microarray analysis. All apparent chromosome abnormalities identified upon karyotyping were detected with the use of microarray analysis. Microarray analysis also reported genetic abnormalities in 20 additional cases not detected by karyotyping. Of these additional 20 cases, 9.3% of pregnancies reported standard genetic variants for clinically relevant information, whereas 11.3% reported uncertain genetic abnormalities. Conclusion Chromosomal microarray analysis is an efficient tool, significantly increasing the diagnostic power for prenatal diagnosis.
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Affiliation(s)
- Jun-Ling Yi
- Central Laboratory of Prenatal Diagnosis and Obstetrics, Tsingdao Municipal Hospital, Tsingdao, Shandong Province, China
| | - Wei Zhang
- Jiangsu Key Laboratory of Phylogenomics and Comparative Genomics, School of Life Sciences, Jiangsu Normal University, Xuzhou, Jiangsu Province, China
- Department of Gynaecology, Tianjin Central Hospital of Obstetrics and Gynaecology, Tianjin Medical University, Tianjin, China
| | - Da-Hua Meng
- Central Laboratory of Prenatal Diagnosis and Obstetrics, Tsingdao Municipal Hospital, Tsingdao, Shandong Province, China
- Guangxi Zhuang Autonomous Region Maternal and Child Health Hospital, Nanning, Guangxi, China
| | - Li-Jie Ren
- The 519th Hospital of the People's Liberation Army, Xichang, Sichuan Province, China
| | - Jin Yu
- Central Laboratory of Prenatal Diagnosis and Obstetrics, Tsingdao Municipal Hospital, Tsingdao, Shandong Province, China
| | - Yi-Liang Wei
- Jiangsu Key Laboratory of Phylogenomics and Comparative Genomics, School of Life Sciences, Jiangsu Normal University, Xuzhou, Jiangsu Province, China
- Department of Gynaecology, Tianjin Central Hospital of Obstetrics and Gynaecology, Tianjin Medical University, Tianjin, China
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Milani HJF, Barreto EQDS, Araujo Júnior E, Peixoto AB, Nardozza LMM, Moron AF. Ultrasonographic evaluation of the fetal central nervous system: review of guidelines. Radiol Bras 2019; 52:176-181. [PMID: 31210692 PMCID: PMC6561375 DOI: 10.1590/0100-3984.2018.0056] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/22/2022] Open
Abstract
Central nervous system malformations constitute the second most common group of
anomalies in fetuses. Such malformations have assumed clinical importance
because of their association with high rates of perinatal morbidity and
mortality. Therefore, it is extremely important to assess the fetal central
nervous system during the prenatal period, in order to identify any changes in
its development and thereby gain sufficient information to advise parents about
pregnancy follow-up, options for fetal therapy, and the timing/type of delivery,
as well as the postnatal treatment and prognosis. The objective of this review
was to describe the ultrasonographic evaluation of the fetal central nervous
system as per the guidelines of the International Society of Ultrasound in
Obstetrics and Gynecology.
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Affiliation(s)
- Hérbene José Figuinha Milani
- Department of Obstetrics, Escola Paulista de Medicina da Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brazil
| | - Enoch Quindere de Sá Barreto
- Department of Obstetrics, Escola Paulista de Medicina da Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brazil
| | - Edward Araujo Júnior
- Department of Obstetrics, Escola Paulista de Medicina da Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brazil
| | - Alberto Borges Peixoto
- Department of Obstetrics, Escola Paulista de Medicina da Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brazil.,Department of Obstetrics and Gynecology, Universidade Federal do Triângulo Mineiro (UFTM), Uberaba, MG, Brazil
| | | | - Antonio Fernandes Moron
- Department of Obstetrics, Escola Paulista de Medicina da Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brazil
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Fetal brain morphometry on prenatal magnetic resonance imaging in congenital diaphragmatic hernia. Pediatr Radiol 2019; 49:217-223. [PMID: 30293137 DOI: 10.1007/s00247-018-4272-z] [Citation(s) in RCA: 22] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/11/2018] [Revised: 08/01/2018] [Accepted: 09/24/2018] [Indexed: 10/28/2022]
Abstract
BACKGROUND Many infants with congenital diaphragmatic hernia (CDH) show brain abnormality on postnatal brain MRI related to severity of CDH, degree of lung hypoplasia, intrathoracic liver, right diaphragmatic hernia and large diaphragmatic defect. It is not known whether these factors affect brain growth in utero in CDH. OBJECTIVE To assess prenatal brain morphometry and abnormalities on fetal MR in congenital diaphragmatic hernia. MATERIALS AND METHODS We retrospectively reviewed 109 fetal MRIs in 63 fetuses with CDH from 2009 to 2014 (27 died before discharge, 36 survived to discharge). We compared brain injury and gestational-age-corrected z-scores of brain measurements between survivors and non-survivors. We assessed correlations between brain abnormalities and CDH severity. RESULTS Enlarged extraaxial space was the most common abnormality, frequently seen on fetal MRI at >28 weeks of gestation, similar in survivors versus non-survivors. Anteroposterior cerebellar vermis dimension at >28 weeks of gestation was smaller in non-survivors compared to survivors (P=.02) and positively correlated with observed/expected total fetal lung volume (P=.01). Transverse cerebellar diameter at >28 weeks of gestation was also positively correlated with observed/expected total fetal lung volume (P=.04). We did not identify maturational delay, abnormal parenchymal signal or intracranial hemorrhage on fetal MRI. CONCLUSION Enlarged extraaxial spaces in the third trimester was the most common abnormality on fetal MRI in congenital diaphragmatic hernia. Cerebellar dimensions on fetal MRI are associated with CDH severity. There was no major brain parenchymal injury on fetal MRI, even in the third trimester, in CDH survivors and non-survivors.
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Ali A, Udoh B, Ugwu A, Chiegwu H, Eze J, Ulu U. Sonographic assessment of normal fetal cerebral lateral ventricular diameter at different gestational ages among fetuses in Southern Nigeria. CHRISMED JOURNAL OF HEALTH AND RESEARCH 2019. [DOI: 10.4103/cjhr.cjhr_98_18] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022] Open
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Evaluation of choroid plexus with fetal magnetic resonance imaging: What happens in ventriculomegaly? Brain Dev 2018; 40:662-669. [PMID: 29739644 DOI: 10.1016/j.braindev.2018.04.009] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/15/2017] [Revised: 01/23/2018] [Accepted: 04/24/2018] [Indexed: 11/21/2022]
Abstract
OBJECTIVES Diagnosis of ventriculomegaly (VM) and identification of choroid plexus (CP) can be challenging with fetal magnetic resonance imaging (MRI). Our aim is to create an adjunct method for supporting the diagnosis of VM by investigating the CP-ventricular wall separation distance in fetuses with and without VM (nV) with fetal MRI. METHODS T2-weighted fetal MRIs of 154 fetuses were retrospectively evaluated. The CP separation was defined as the distance between the medial wall of the dependent ventricle and distal tip of the CP glomus. The measurement was performed at the same plane with the dependent ventricle measurement by two blinded readers. RESULTS 41 fetuses with VM (mean gestational age 27 (19-35 weeks), and 44 nV fetuses (mean gestational age 28 (20-39 weeks) were included. Interobserver reliability was excellent for ventricle diameters (R = 0.99, confidence interval (CI) 95%) and the separation of CP (R = 0.98, CI 95%). Mean distance of CP separation was 10.7 mm ± 4.2 mm and 3.0 ± 1.6 mm in VM and nV fetuses, respectively (p < 0.001). The distance of CP separation to differentiate VM cases was 6.5 mm (sensitivity: 0.98, specificity: 0.98). Separation of CP was correlated to ventricle diameter in cases with (R = 0.674) and without VM (R = 0.805). For the cut-off value >0.65 cm for the distance between the medial wall of the dependent ventricle and the medial border of choroid plexus sensitivity is 97.56, specificity 95.45, positive predictive value (PPV) 95.20, negative predictive value (NPV) 97.70, and likelihood ratio (LR) (+) is 21.46. CONCLUSION Fetal CP can be efficiently evaluated with MRI, and the increase of CP-ventricular wall separation distance in correlation with the ventricle diameter is a reliable sign in the diagnosis of fetal VM.
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Carta S, Kaelin Agten A, Belcaro C, Bhide A. Outcome of fetuses with prenatal diagnosis of isolated severe bilateral ventriculomegaly: systematic review and meta-analysis. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2018; 52:165-173. [PMID: 29484752 DOI: 10.1002/uog.19038] [Citation(s) in RCA: 57] [Impact Index Per Article: 8.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 04/21/2017] [Revised: 02/07/2018] [Accepted: 02/16/2018] [Indexed: 06/08/2023]
Abstract
OBJECTIVE To quantify from the published literature survival and neurodevelopmental outcome of fetuses with prenatally detected isolated severe bilateral ventriculomegaly. METHODS MEDLINE, EMBASE and the Cochrane Library were searched electronically. Only cases with a prenatal diagnosis of apparently isolated severe ventriculomegaly and postnatal neurodevelopmental assessment were selected and included. Severe ventriculomegaly was defined as enlargement of the ventricular atria, with a diameter of greater than 15 mm in the transventricular plane. All cases in which the investigators were unable to detect associated structural abnormality, chromosomal abnormality or fetal infection, and in which the ventriculomegaly was therefore regarded as apparently isolated, were included. Those for which the etiology was identified prenatally were excluded, whereas those with postnatal identification of the underlying cause were not excluded, since this information was not available prenatally. The quality of the included studies was assessed using the Newcastle-Ottawa Scale (NOS) for cohort studies. Pregnancy outcomes such as termination, stillbirth, neonatal survival and developmental outcome of the baby, were recorded. The degree of disability was classified as no, mild or severe disability. Statistical assessment was performed by meta-analysis of proportions to combine data, weighting the studies using the inverse variance method and a random-effects model. Proportions and CIs were reported. RESULTS Eleven studies including 137 fetuses were found. Twenty-seven pregnancies underwent termination and were excluded. The remaining 110 fetuses with apparently isolated severe ventriculomegaly for which continuation of pregnancy was intended, form the study population. Overall quality assessed using NOS for cohort studies was good. Survival was reported in 95/110 (pooled proportion 87.9% (95% CI, 75.6-96.2%)) cases. In 15/110 (pooled proportion 12.1% (95% CI, 3.8-24.4%)), either stillbirth or neonatal demise was reported. No disability was reported in 41/95 survivors (pooled proportion 42.2% (95% CI, 27.5-57.6%)). However, 17/95 showed mild/moderate disability (pooled proportion 18.6% (95% CI, 7.2-33.8%)) and 37/95 were reported to have severe disability (pooled proportion 39.6% (95% CI, 30.0-50.0%)). CONCLUSIONS Four-fifths of fetuses with severe ventriculomegaly survive and, of these, just over two-fifths show normal neurodevelopment. The overall survivors without disability account for more than one third of the total. Given that many cases undergo termination of pregnancy and require longer follow-up in order to detect subtle abnormalities, mortality and prevalence of developmental delay may be even higher than that reported in this paper. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.
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Affiliation(s)
- S Carta
- Fetal Medicine Unit, St George's University Hospital NHS Foundation Trust, London, UK
| | - A Kaelin Agten
- Fetal Medicine Unit, St George's University Hospital NHS Foundation Trust, London, UK
| | - C Belcaro
- Fetal Medicine Unit, St George's University Hospital NHS Foundation Trust, London, UK
| | - A Bhide
- Fetal Medicine Unit, St George's University Hospital NHS Foundation Trust, London, UK
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Radhakrishnan R, Merhar SL, Su W, Zhang B, Burns P, Lim FY, Kline-Fath BM. Prenatal Factors Associated with Postnatal Brain Injury in Infants with Congenital Diaphragmatic Hernia. AJNR Am J Neuroradiol 2017; 39:558-562. [PMID: 29269406 DOI: 10.3174/ajnr.a5500] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/11/2017] [Accepted: 10/30/2017] [Indexed: 01/23/2023]
Abstract
BACKGROUND AND PURPOSE Approximately 60% of infants with congenital diaphragmatic hernia have evidence of brain injury on postnatal MR imaging. It is unclear whether any brain injury is present before birth. In this study, we evaluated fetal MR imaging findings of brain injury and the association of congenital diaphragmatic hernia severity with postnatal brain injury. MATERIALS AND METHODS Fetal MR imaging and postnatal brain MR imaging were retrospectively evaluated in 36 cases of congenital diaphragmatic hernia (from 2009 to 2014) by 2 pediatric neuroradiologists. Brain injury on postnatal MR imaging and brain injury and congenital diaphragmatic hernia severity on fetal MR imaging were recorded. Correlations between brain abnormalities on fetal and postnatal brain MR imaging were analyzed. Postnatal brain injury findings correlating with the severity of congenital diaphragmatic hernia were also assessed. RESULTS On fetal MR imaging, enlarged extra-axial spaces (61%), venous sinus distention (21%), and ventriculomegaly (6%) were identified. No maturational delay, intracranial hemorrhage, or brain parenchymal injury was identified on fetal MR imaging. On postnatal MR imaging, 67% of infants had evidence of abnormality, commonly, enlarged extra-axial spaces (44%). Right-sided congenital diaphragmatic hernia was associated with a greater postnatal brain injury score (P = .05). Low observed-to-expected lung volume was associated with postnatal white matter injury (P = .005) and a greater postnatal brain injury score (P = .008). Lack of liver herniation was associated with normal postnatal brain MR imaging findings (P = .03). CONCLUSIONS Fetal lung hypoplasia is associated with postnatal brain injury in congenital diaphragmatic hernia, suggesting that the severity of lung disease and associated treatments affect brain health as well. We found no evidence of prenatal brain parenchymal injury or maturational delay.
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Affiliation(s)
- R Radhakrishnan
- From the Department of Radiology (R.R.), Riley Hospital for Children at Indiana University, Indianapolis, Indiana
| | | | - W Su
- Department of Mathematics (W.S.), University of Cincinnati, Cincinnati, Ohio
| | - B Zhang
- Division of Neonatology, Division of Biostatistics and Epidemiology (B.Z.)
| | - P Burns
- Fetal Care Center (P.B., F.Y.L.)
| | - F Y Lim
- Fetal Care Center (P.B., F.Y.L.)
| | - B M Kline-Fath
- Department of Radiology (B.M.K.-F.), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
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Mehlhorn AJ, Morin CE, Wong-You-Cheong JJ, Contag SA. Mild fetal cerebral ventriculomegaly: prevalence, characteristics, and utility of ancillary testing in cases presenting to a tertiary referral center. Prenat Diagn 2017; 37:647-657. [DOI: 10.1002/pd.5057] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/12/2017] [Revised: 04/10/2017] [Accepted: 04/19/2017] [Indexed: 12/18/2022]
Affiliation(s)
| | - Cara E. Morin
- University of Maryland Medical Center; Baltimore MD USA
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Andescavage NN, DuPlessis A, McCarter R, Vezina G, Robertson R, Limperopoulos C. Cerebrospinal Fluid and Parenchymal Brain Development and Growth in the Healthy Fetus. Dev Neurosci 2017; 38:420-429. [PMID: 28315866 DOI: 10.1159/000456711] [Citation(s) in RCA: 17] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/19/2016] [Accepted: 01/17/2017] [Indexed: 01/26/2023] Open
Abstract
OBJECTIVE The objective of this study was to apply quantitative magnetic resonance imaging to characterize absolute cerebrospinal fluid (CSF) development, as well as its relative development to fetal brain parenchyma in the healthy human fetus. DESIGN We created three-dimensional high-resolution reconstructions of the developing brain for healthy fetuses between 18 and 40 weeks' gestation, segmented the parenchymal and CSF spaces, and calculated the volumes for the lateral, third, and fourth ventricles; extra-axial CSF space; and the cerebrum, cerebellum, and brainstem. From these data, we constructed normograms of the resulting volumes according to gestational age and described the relative development of CSF to fetal brain parenchyma. RESULTS Each CSF space demonstrated major increases in volumetric growth during the second half of gestation: third ventricle (23-fold), extra-axial CSF (11-fold), fourth ventricle (8-fold), and lateral ventricle (2-fold). Total CSF volume was related to total brain volume (p < 0.01), as was lateral ventricle to cerebral volume (p < 0.01); however, the fourth ventricle was not related to cerebellar or brainstem volume (p = 0.18-0.19). RELEVANCE Abnormalities of the CSF spaces are the most common anomalies of neurologic development detected on fetal screening using neurosonography. Normative values of absolute CSF volume, as well as relative growth in comparison to intracranial parenchyma, provide valuable insight into normal fetal neurodevelopment. These data may provide important biomarkers of early deviations from normal growth, better distinguish between benign variants and early disease, and serve as reference standards for postnatal growth and development in the premature infant.
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Minowa H, Hirayama K, Arai I, Yasuhara H, Ebisu R, Ohgitani A. Clinical significance of slightly lateral ventricular enlargement in healthy infants. J Matern Fetal Neonatal Med 2016; 30:1393-1396. [DOI: 10.1080/14767058.2016.1214704] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/21/2022]
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Brossard-Racine M, du Plessis A, Vezina G, Robertson R, Donofrio M, Tworetzky W, Limperopoulos C. Brain Injury in Neonates with Complex Congenital Heart Disease: What Is the Predictive Value of MRI in the Fetal Period? AJNR Am J Neuroradiol 2016; 37:1338-46. [PMID: 26988809 DOI: 10.3174/ajnr.a4716] [Citation(s) in RCA: 48] [Impact Index Per Article: 5.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/14/2015] [Accepted: 01/05/2016] [Indexed: 01/26/2023]
Abstract
BACKGROUND AND PURPOSE Brain injury in neonates with congenital heart disease is an important predictor of adverse neurodevelopmental outcome. Impaired brain development in congenital heart disease may have a prenatal origin, but the sensitivity and specificity of fetal brain MR imaging for predicting neonatal brain lesions are currently unknown. We sought to determine the value of conventional fetal MR imaging for predicting abnormal findings on neonatal preoperative MR imaging in neonates with complex congenital heart disease. MATERIALS AND METHODS MR imaging studies were performed in 103 fetuses with confirmed congenital heart disease (mean gestational age, 31.57 ± 3.86 weeks) and were repeated postnatally before cardiac surgery (mean age, 6.8 ± 12.2 days). Each MR imaging study was read by a pediatric neuroradiologist. RESULTS Brain abnormalities were detected in 17/103 (16%) fetuses by fetal MR imaging and in 33/103 (32%) neonates by neonatal MR imaging. Only 9/33 studies with abnormal neonatal findings were preceded by abnormal findings on fetal MR imaging. The sensitivity and specificity of conventional fetal brain MR imaging for predicting neonatal brain abnormalities were 27% and 89%, respectively. CONCLUSIONS Brain abnormalities detected by in utero MR imaging in fetuses with congenital heart disease are associated with higher risk of postnatal preoperative brain injury. However, a substantial proportion of anomalies on postnatal MR imaging were not present on fetal MR imaging; this result is likely due to the limitations of conventional fetal MR imaging and the emergence of new lesions that occurred after the fetal studies. Postnatal brain MR imaging studies are needed to confirm the presence of injury before open heart surgery.
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Affiliation(s)
- M Brossard-Racine
- From the Advanced Pediatric Brain Imaging Research Laboratory (M.B.-R., C.L.) Division of Diagnostic Imaging and Radiology (M.B.-R., G.V., C.L.) Fetal and Transitional Medicine (M.B.-R., A.d.P., C.L.)
| | - A du Plessis
- Fetal and Transitional Medicine (M.B.-R., A.d.P., C.L.)
| | - G Vezina
- Division of Diagnostic Imaging and Radiology (M.B.-R., G.V., C.L.)
| | | | - M Donofrio
- Division of Cardiology (M.D.), Children's National Health System, Washington DC
| | - W Tworetzky
- Cardiology (W.T.), Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts
| | - C Limperopoulos
- From the Advanced Pediatric Brain Imaging Research Laboratory (M.B.-R., C.L.) Division of Diagnostic Imaging and Radiology (M.B.-R., G.V., C.L.) Fetal and Transitional Medicine (M.B.-R., A.d.P., C.L.)
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Ipek A, Sayit AT, Idilman IS, Kurt A, Cay N, Unal O, Karabulut E, Keskin HL, Karaoglanoglu M. Choroid plexus separation in fetuses without ventriculomegaly: Natural course and postnatal outcome. JOURNAL OF CLINICAL ULTRASOUND : JCU 2015; 43:478-484. [PMID: 25944024 DOI: 10.1002/jcu.22270] [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: 10/09/2014] [Revised: 12/08/2014] [Accepted: 12/26/2014] [Indexed: 06/04/2023]
Abstract
PURPOSE To evaluate fetuses with choroid plexus separation without ventriculomegaly in terms of fetal malformations, behavior of the separation during follow-up, and postnatal outcome. METHODS In total, 172 fetuses with choroid plexus separation without ventriculomegaly were included in this prospective study. Fetal sonography was performed at 2- to 4-week intervals, and detailed physical and neurologic examinations were performed after their delivery. Fetuses were categorized into normal and abnormal subgroups according to the outcome. RESULTS Sixteen fetuses (9.3%) were included in the abnormal-outcome group and 156 fetuses (90.7%) were included in the normal-outcome group. Both the initial mean lateral ventricular diameter (9.3 mm versus 8.6 mm) and the initial mean choroid plexus separation (4.8 mm versus 3.3 mm) were greater in the abnormal group than in the normal group (p < 0.001 for both comparisons). We found that 4.0 mm was the best cutoff point of choroid plexus separation to detect a major anomaly, with 87.5% sensitivity and 93.6% specificity. CONCLUSIONS Choroid plexus separation without ventriculomegaly often resolves within the third trimester and does not affect postnatal outcome. It can be associated with various fetal malformations; however, with a comprehensive examination, all fetal malformations can be detected prenatally. Follow-up sonography studies would be useful, especially in the case of suspected corpus callosum agenesis.
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Affiliation(s)
- Ali Ipek
- Ankara Atatürk Education and Research Hospital, Department of Radiology, Ankara, Turkey
| | | | - Ilkay S Idilman
- Ankara Atatürk Education and Research Hospital, Department of Radiology, Ankara, Turkey
| | - Aydın Kurt
- Diskapi Yildirim Beyazit Education and Research Hospital, Department of Radiology, Ankara, Turkey
| | - Nurdan Cay
- Ankara Atatürk Education and Research Hospital, Department of Radiology, Ankara, Turkey
| | - Ozlem Unal
- Ankara Atatürk Education and Research Hospital, Department of Radiology, Ankara, Turkey
| | - Erdem Karabulut
- Hacettepe University, Faculty of Medicine, Department of Biostatistics, Ankara, Turkey
| | - Huseyin Levent Keskin
- Ankara Atatürk Education and Research Hospital, Department of Obstetrics and Gynecology, Ankara, Turkey
| | - Mustafa Karaoglanoglu
- Ankara Atatürk Education and Research Hospital, Department of Radiology, Ankara, Turkey
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Tugcu AU, Gulumser C, Ecevit A, Abbasoglu A, Uysal NS, Kupana ES, Yanik FF, Tarcan A. Prenatal evaluation and postnatal early outcomes of fetal ventriculomegaly. Eur J Paediatr Neurol 2014; 18:736-40. [PMID: 25135472 DOI: 10.1016/j.ejpn.2014.07.002] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/02/2014] [Revised: 06/17/2014] [Accepted: 07/07/2014] [Indexed: 11/25/2022]
Abstract
OBJECTIVE This study aims to determine the incidence, etiology, diagnostic criteria and early outcomes of prenatally diagnosed fetal ventriculomegaly (VM). METHODS Diagnostic criteria for the fetal VM was atrial diameter of lateral ventricle measuring ≥10 mm, independent from gestational age. Results of our patients from ultrasonography (USG), karyotyping, congenital infections, and associated abnormalities were noted. Progress during pregnancy, postnatal USG results and neurobehavioral outcomes were recorded. RESULTS In our study, 40 subjects of fetal VM were recorded. 16 and 24 of those were bilateral (40%) and unilateral (60%) respectively. Female to male fetus ratio was 19/21 (0.9). Median gestational age at the diagnosis was 22 weeks (ranging between 16 and 34 weeks). While 21 VM subjects were isolated (52.5%) only 19 of the total were shown associated structural abnormalities in (47.5%) in addition to VM. Toxoplasmosis were diagnosed only in one subject (2.5%). Nineteen subjects had amniocentesis (47.5%) and 2 of them were showed abnormalities (10.5%) as follows; "inversion and duplication 8 (p11.2p23)" and "deletion 3". VM got back in to normal size during pregnancy in 24 subjects (24/40, 60%). Eight pregnancies were terminated (8/40) (20%). Five babies passed away during neonatal and postneonatal period. Some other structural abnormalities were diagnosed after the birth at six babies who classified as mild "isolated" VM. CONCLUSIONS Our study revealed that amongst mild VM subjects, incidence of associated abnormalities and termination rate were higher. Although most of mild VM subjects are thought to be benign, associated abnormalities should be carefully evaluated and determined pre- and postnatally.
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Affiliation(s)
- Ali Ulas Tugcu
- Department of Pediatrics, Division of Neonatology, Baskent University Faculty of Medicine, Ankara Hospital, Ankara, Turkey.
| | - Cagri Gulumser
- Department of Obstetrics and Gynecology, Division of Perinatology, Baskent University Faculty of Medicine, Ankara Hospital, Ankara, Turkey
| | - Ayse Ecevit
- Department of Pediatrics, Division of Neonatology, Baskent University Faculty of Medicine, Ankara Hospital, Ankara, Turkey
| | - Aslihan Abbasoglu
- Department of Pediatrics, Division of Neonatology, Baskent University Faculty of Medicine, Ankara Hospital, Ankara, Turkey
| | - Nihal Sahin Uysal
- Department of Obstetrics and Gynecology, Division of Perinatology, Baskent University Faculty of Medicine, Ankara Hospital, Ankara, Turkey
| | - Ebru Sebnem Kupana
- Department of Pathology, Baskent University Faculty of Medicine, Ankara Hospital, Ankara, Turkey
| | - Fatma Filiz Yanik
- Department of Obstetrics and Gynecology, Division of Perinatology, Baskent University Faculty of Medicine, Ankara Hospital, Ankara, Turkey
| | - Aylin Tarcan
- Department of Pediatrics, Division of Neonatology, Baskent University Faculty of Medicine, Ankara Hospital, Ankara, Turkey
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Wax J, Minkoff H, Johnson A, Coleman B, Levine D, Helfgott A, O’Keefe D, Henningsen C, Benson C. Consensus Report on the Detailed Fetal Anatomic Ultrasound Examination. JOURNAL OF DIAGNOSTIC MEDICAL SONOGRAPHY 2014. [DOI: 10.1177/8756479314532221] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022]
Affiliation(s)
| | | | | | - Beverly Coleman
- University of Pennsylvania School of Medicine, Philadelphia, PA, USA
| | | | - Andrew Helfgott
- University of South Carolina School of Medicine, Columbia, SC, USA
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Brossard-Racine M, du Plessis AJ, Vezina G, Robertson R, Bulas D, Evangelou IE, Donofrio M, Freeman D, Limperopoulos C. Prevalence and spectrum of in utero structural brain abnormalities in fetuses with complex congenital heart disease. AJNR Am J Neuroradiol 2014; 35:1593-9. [PMID: 24651820 DOI: 10.3174/ajnr.a3903] [Citation(s) in RCA: 51] [Impact Index Per Article: 4.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/07/2022]
Abstract
BACKGROUND AND PURPOSE Brain injury is a major complication in neonates with complex congenital heart disease. Preliminary evidence suggests that fetuses with congenital heart disease are at greater risk for brain abnormalities. However, the nature and frequency of these brain abnormalities detected by conventional fetal MR imaging has not been examined prospectively. Our primary objective was to determine the prevalence and spectrum of brain abnormalities detected on conventional clinical MR imaging in fetuses with complex congenital heart disease and, second, to compare the congenital heart disease cohort with a control group of fetuses from healthy pregnancies. MATERIALS AND METHODS We prospectively recruited pregnant women with a confirmed fetal congenital heart disease diagnosis and healthy volunteers with normal fetal echocardiogram findings who underwent a fetal MR imaging between 18 and 39 weeks gestational age. RESULTS A total of 338 fetuses (194 controls; 144 with congenital heart disease) were studied at a mean gestational age of 30.61 ± 4.67 weeks. Brain abnormalities were present in 23% of the congenital heart disease group compared with 1.5% in the control group (P < .001). The most common abnormalities in the congenital heart disease group were mild unilateral ventriculomegaly in 12/33 (36.4%) and increased extra-axial spaces in 10/33 (30.3%). Subgroup analyses comparing the type and frequency of brain abnormalities based on cardiac physiology did not reveal significant associations, suggesting that the brain abnormalities were not limited to those with the most severe congenital heart disease. CONCLUSIONS This is the first large prospective study reporting conventional MR imaging findings in fetuses with congenital heart disease. Our results suggest that brain abnormalities are prevalent but relatively mild antenatally in fetuses with congenital heart disease. The long-term predictive value of these findings awaits further study.
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Affiliation(s)
- M Brossard-Racine
- From the Advanced Pediatric Brain Imaging Research Laboratory (M.B.-R., I.E.E., D.F., C.L.)Division of Diagnostic Imaging and Radiology (M.B.-R., G.V., D.B., I.E.E., D.F., C.L.)Fetal and Transitional Medicine (M.B.-R., A.d.P., M.D., C.L.)
| | - A J du Plessis
- Fetal and Transitional Medicine (M.B.-R., A.d.P., M.D., C.L.)
| | - G Vezina
- Division of Diagnostic Imaging and Radiology (M.B.-R., G.V., D.B., I.E.E., D.F., C.L.)
| | - R Robertson
- Department of Radiology (R.R.), Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts
| | - D Bulas
- Division of Diagnostic Imaging and Radiology (M.B.-R., G.V., D.B., I.E.E., D.F., C.L.)
| | - I E Evangelou
- From the Advanced Pediatric Brain Imaging Research Laboratory (M.B.-R., I.E.E., D.F., C.L.)Division of Diagnostic Imaging and Radiology (M.B.-R., G.V., D.B., I.E.E., D.F., C.L.)
| | - M Donofrio
- Fetal and Transitional Medicine (M.B.-R., A.d.P., M.D., C.L.)Division of Cardiology (M.D.), Children's National Medical Center, Washington DC
| | - D Freeman
- From the Advanced Pediatric Brain Imaging Research Laboratory (M.B.-R., I.E.E., D.F., C.L.)Division of Diagnostic Imaging and Radiology (M.B.-R., G.V., D.B., I.E.E., D.F., C.L.)
| | - C Limperopoulos
- From the Advanced Pediatric Brain Imaging Research Laboratory (M.B.-R., I.E.E., D.F., C.L.)Division of Diagnostic Imaging and Radiology (M.B.-R., G.V., D.B., I.E.E., D.F., C.L.)Fetal and Transitional Medicine (M.B.-R., A.d.P., M.D., C.L.)
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Hidaka N, Ishii K, Kanazawa R, Miyagi A, Irie A, Hayashi S, Mitsuda N. Perinatal characteristics of fetuses with borderline ventriculomegaly detected by routine ultrasonographic screening of low-risk populations. J Obstet Gynaecol Res 2014; 40:1030-6. [PMID: 24612264 DOI: 10.1111/jog.12298] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/13/2013] [Accepted: 09/10/2013] [Indexed: 11/28/2022]
Abstract
AIM Fetal borderline ventriculomegaly represents a frequent dilemma in perinatal management. The present study aimed to evaluate the clinical significance of fetal borderline ventriculomegaly in a low-risk Japanese population and to identify the risk factors for associated anomalies. METHODS Data of cases of fetal borderline ventriculomegaly detected at 26-28 weeks of gestation by routine ultrasonographic screening of low-risk singleton pregnancies between 2006 and 2012 were retrospectively collected. Ventricular width, in utero progression, associated anomalies, chromosomal abnormalities, and perinatal and postnatal outcomes were assessed. The ventricular width, in utero progression and other perinatal characteristics were compared between the isolated and non-isolated groups. RESULTS Among the total 6020 singleton low-risk pregnancies, we noted that 42 had borderline ventriculomegaly. Six (14%) of these cases had other defects by subsequent detailed examination. Ventriculomegaly resolved or regressed in 35 (83%) and progressed in four (10%) cases, of which three were associated with other anomalies. The median ventricular width was 12.8 mm (range, 10.0-14.7) in the six non-isolated cases and 10.5 mm (range, 10.0-13.3) in the 36 isolated cases; the differences were statistically significant. A ventricular width of 12 mm or more and in utero progression were more frequently observed in non-isolated cases than in isolated cases. CONCLUSION Fetal borderline ventriculomegaly frequently resolves in utero. A ventricular diameter of more than 12 mm and in utero progression are risk factors for additional anomalies. After the initial diagnosis of borderline ventriculomegaly, the pregnancy should be carefully followed up to determine whether the ventricle size is resolved, remains stable or increases.
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Affiliation(s)
- Nobuhiro Hidaka
- Department of Maternal Fetal Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan
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25
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Wax J, Minkoff H, Johnson A, Coleman B, Levine D, Helfgott A, O'Keeffe D, Henningsen C, Benson C. Consensus report on the detailed fetal anatomic ultrasound examination: indications, components, and qualifications. JOURNAL OF ULTRASOUND IN MEDICINE : OFFICIAL JOURNAL OF THE AMERICAN INSTITUTE OF ULTRASOUND IN MEDICINE 2014; 33:189-195. [PMID: 24449720 DOI: 10.7863/ultra.33.2.189] [Citation(s) in RCA: 65] [Impact Index Per Article: 5.9] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/03/2023]
Affiliation(s)
- Joseph Wax
- MMC Ob/Gyn Associates, 887 Congress St, Suite 200, Portland, ME 04102 USA.
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26
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Lyall AE, Woolson S, Wolfe HM, Goldman BD, Reznick JS, Hamer RM, Lin W, Styner M, Gerig G, Gilmore JH. Prenatal isolated mild ventriculomegaly is associated with persistent ventricle enlargement at ages 1 and 2. Early Hum Dev 2012; 88:691-8. [PMID: 22445211 PMCID: PMC3386468 DOI: 10.1016/j.earlhumdev.2012.02.003] [Citation(s) in RCA: 32] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/16/2011] [Revised: 02/13/2012] [Accepted: 02/14/2012] [Indexed: 12/23/2022]
Abstract
BACKGROUND Enlargement of the lateral ventricles is thought to originate from abnormal prenatal brain development and is associated with neurodevelopmental disorders. Fetal isolated mild ventriculomegaly (MVM) is associated with the enlargement of lateral ventricle volumes in the neonatal period and developmental delays in early childhood. However, little is known about postnatal brain development in these children. METHODS Twenty-eight children with fetal isolated MVM and 56 matched controls were followed at ages 1 and 2 years with structural imaging on a 3T Siemens scanner and assessment of cognitive development with the Mullen Scales of Early Learning. Lateral ventricle, total gray and white matter volumes, and Mullen cognitive composite scores and subscale scores were compared between groups. RESULTS Compared to controls, children with prenatal isolated MVM had significantly larger lateral ventricle volumes at ages 1 and 2 years. Lateral ventricle volume at 1 and 2 years of age was significantly correlated with prenatal ventricle size. Enlargement of the lateral ventricles was associated with increased intracranial volumes and increased gray and white matter volumes. Children with MVM had Mullen composite scores similar to controls, although there was evidence of delay in fine motor and expressive language skills. CONCLUSIONS Children with prenatal MVM have persistent enlargement of the lateral ventricles through the age of 2 years; this enlargement is associated with increased gray and white matter volumes and some evidence of delay in fine motor and expressive language development. Further study is needed to determine if enlarged lateral ventricles are associated with increased risk for neurodevelopmental disorders.
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Affiliation(s)
- Amanda E. Lyall
- Department of Psychiatry, University of North Carolina, Chapel Hill, NC
| | - Sandra Woolson
- Department of Psychiatry, University of North Carolina, Chapel Hill, NC
| | - Honor M. Wolfe
- Department of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, NC
| | - Barbara Davis Goldman
- FPG Child Development Institute, University of North Carolina, Chapel Hill, NC,Department of Psychology, University of North Carolina, Chapel Hill, NC
| | - J. Steven Reznick
- FPG Child Development Institute, University of North Carolina, Chapel Hill, NC,Department of Psychology, University of North Carolina, Chapel Hill, NC
| | - Robert M. Hamer
- Department of Psychiatry, University of North Carolina, Chapel Hill, NC,Department of Biostatistics, University of North Carolina, Chapel Hill, NC
| | - Weili Lin
- Department of Radiology, University of North Carolina, Chapel Hill, NC,Biomedical Research Imaging Center, University of North Carolina, Chapel Hill, NC
| | - Martin Styner
- Department of Psychiatry, University of North Carolina, Chapel Hill, NC,FPG Child Development Institute, University of North Carolina, Chapel Hill, NC
| | - Guido Gerig
- Scientific Computing and Imaging Institute, University of Utah, Salt Lake City, UT
| | - John H. Gilmore
- Department of Psychiatry, University of North Carolina, Chapel Hill, NC,Biomedical Research Imaging Center, University of North Carolina, Chapel Hill, NC
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27
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Kennelly MM, Cooley SM, McParland PJ. Natural history of apparently isolated severe fetal ventriculomegaly: perinatal survival and neurodevelopmental outcome. Prenat Diagn 2009; 29:1135-40. [PMID: 19821481 DOI: 10.1002/pd.2378] [Citation(s) in RCA: 35] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/07/2022]
Affiliation(s)
- M M Kennelly
- Department of Fetal Medicine, National Maternity Hospital, Dublin, Ireland.
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28
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Melchiorre K, Bhide A, Gika AD, Pilu G, Papageorghiou AT. Counseling in isolated mild fetal ventriculomegaly. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2009; 34:212-224. [PMID: 19644944 DOI: 10.1002/uog.7307] [Citation(s) in RCA: 107] [Impact Index Per Article: 6.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/28/2023]
Abstract
In this Review we aim to provide up-to-date and evidence-based answers to the common questions regarding the diagnosis of isolated mild fetal ventriculomegaly (VM). A literature search was performed to identify all reports of antenatal VM in the English language literature. In addition, reference lists of articles identified using the search were scrutinized to further identify relevant articles. Fetal mild VM is commonly defined as a ventricular atrial width of 10.0-15.0 mm, and it is considered isolated if there are no associated ultrasound abnormalities. There is no good evidence to suggest that the width of the ventricular atria contributes to the risk of neurodevelopmental outcome in fetuses with mild VM. The most important prognostic factors are the association with other abnormalities that escape early detection and the progression of ventricular dilatation, which are reported to occur in about 13% and 16% of cases, respectively. Most infants with a prenatal diagnosis of isolated mild VM have normal neurological development at least in infancy. The rate of abnormal or delayed neurodevelopment in infancy is about 11%, and it is unclear whether this is higher than in the general population. Furthermore, the number of infants that develop a real handicap is unknown. There are limitations of existing studies of mild VM. Although they address many of the relevant questions regarding the prognosis and management of fetal isolated mild VM, there is a lack of good-quality postnatal follow-up studies. The resulting uncertainties make antenatal counseling for this abnormality difficult.
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Affiliation(s)
- K Melchiorre
- Fetal Medicine Unit, Academic Department of Obstetrics and Gynaecology, St George's Hospital Medical School, London, UK
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29
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Laskin MD, Kingdom J, Toi A, Chitayat D, Ohlsson A. Perinatal and neurodevelopmental outcome with isolated fetal ventriculomegaly: A systematic review. J Matern Fetal Neonatal Med 2009; 18:289-98. [PMID: 16390787 DOI: 10.1080/14767050500329775] [Citation(s) in RCA: 33] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/25/2022]
Abstract
OBJECTIVE To establish the perinatal and neurodevelopmental outcomes of fetuses diagnosed with isolated ventriculomegaly (IVM). METHODS A systematic review of cohort, case/control studies, case series and case reports of IVM (unilateral or bilateral enlargement of the lateral ventricle, >or=10 mm, with no additional diagnosis at the time of the initial ultrasound), identified by searching, without language restrictions, The Cochrane Library, MEDLINE and Embase databases in June 2004. RESULTS No cohort study was retrieved but 577 cases were identified in one case/control study and 29 case series/case reports. Of 207 cases with follow-up and known gestational age at diagnosis, normal developmental outcomes were found in 82%, mild impairments in 9% and moderate/severe impairments in 10%. Prenatal diagnosis could possibly have reduced the risk of moderate/severe impairments to 7%. In 137 cases followed to at least 20 months of age, 79% had normal neurodevelopment, 10% were mildly delayed and 11% had moderate/severe developmental delays. CONCLUSIONS Outcome was favorable in 85% of IVM cases, decreasing to 79% when cases were followed to at least 20 months of age. We recommend prospective cohort studies with new diagnostic modalities to better identify the underlying conditions relating to moderate/severe impairments in the remaining cases.
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Affiliation(s)
- Matthew D Laskin
- Department of Obstetrics & Gynecology, Mount Sinai Hospital, University of Toronto, Canada
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30
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Valsecchi L, Cavoretto P, Di Piazza L, Smid M, Pontesilli S, Scotti R, Spagnolo D, Baldoli C. Prenatal diagnosis by 3D ultrasound and MRI of an unusual malformation of cortical development with brain-in-brain appearance. JOURNAL OF CLINICAL ULTRASOUND : JCU 2009; 37:354-359. [PMID: 19353577 DOI: 10.1002/jcu.20579] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/27/2023]
Abstract
A 31-year-old pregnant woman was referred for isolated mild ventriculomegaly and failure to visualize the left lateral ventricle's anterior horn on second trimester sonography (US). Three-dimensional US suspected a frontal lesion deviating the midline. MRI revealed a mass compressing the ventricle. Follow-up MRI described a "brain-in-brain" malformation: infolded microgyric cortex and white matter in frontal lobe extending to frontal horn and midline, irrorated by hypertophic Heubner artery. Conservative approach was chosen. Neurodevelopment at 1 year is normal.
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Affiliation(s)
- Luca Valsecchi
- Obstetrics and Gynaecology Department, IRCCS San Raffaele Scientific Centre, Milan, Italy
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31
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Gaglioti P, Oberto M, Todros T. The significance of fetal ventriculomegaly: etiology, short- and long-term outcomes. Prenat Diagn 2009; 29:381-8. [PMID: 19184972 DOI: 10.1002/pd.2195] [Citation(s) in RCA: 98] [Impact Index Per Article: 6.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/06/2022]
Abstract
Fetal cerebral ventriculomegaly (VM) is diagnosed when the width of one or both ventricles, measured at the level of the glomus of the choroid plexus (atrium), is > or = 10 mm. VM can result from different processes: abnormal turnover of the cerebrospinal fluid (CSF), neuronal migration disorders, and destructive processes. In a high percentage of cases, it is associated with structural malformations of the central nervous system (CNS), but also of other organs and systems. The rate of associated malformations is higher (> or =60%) in severe VM (>15 mm) and lower (10-50%) in cases of borderline VM (10-15 mm). When malformations are not present, aneuploidies are found in 3-15% of borderline VM; the percentage is lower in severe VM. The neurodevelopmental outcome of isolated VM is normal in > 90% of cases if the measurement of ventricular width is between 10 and 12 mm; it is less favorable when the measurement is > 12 mm.
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Affiliation(s)
- Pietro Gaglioti
- Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Turin, Turin, Italy
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32
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Gilmore JH, Smith LC, Wolfe HM, Hertzberg BS, Smith JK, Chescheir NC, Evans DD, Kang C, Hamer RM, Lin W, Gerig G. Prenatal mild ventriculomegaly predicts abnormal development of the neonatal brain. Biol Psychiatry 2008; 64:1069-76. [PMID: 18835482 PMCID: PMC2630424 DOI: 10.1016/j.biopsych.2008.07.031] [Citation(s) in RCA: 61] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/04/2008] [Revised: 06/09/2008] [Accepted: 07/12/2008] [Indexed: 12/17/2022]
Abstract
BACKGROUND Many psychiatric and neurodevelopmental disorders are associated with mild enlargement of the lateral ventricles thought to have origins in prenatal brain development. Little is known about development of the lateral ventricles and the relationship of prenatal lateral ventricle enlargement with postnatal brain development. METHODS We performed neonatal magnetic resonance imaging on 34 children with isolated mild ventriculomegaly (MVM; width of the atrium of the lateral ventricle >/= 1.0 cm) on prenatal ultrasound and 34 age- and sex-matched control subjects with normal prenatal ventricle size. Lateral ventricle and cortical gray and white matter volumes were assessed. Fractional anisotropy (FA) and mean diffusivity (MD) in corpus callosum and corticospinal white matter tracts were determined obtained using quantitative tractography. RESULTS Neonates with prenatal MVM had significantly larger lateral ventricle volumes than matched control subjects (286.4%; p < .0001). Neonates with MVM also had significantly larger intracranial volumes (ICV; 7.1%, p = .0063) and cortical gray matter volumes (10.9%, p = .0004) compared with control subjects. Diffusion tensor imaging tractography revealed a significantly greater MD in the corpus callosum and corticospinal tracts, whereas FA was significantly smaller in several white matter tract regions. CONCLUSIONS Prenatal enlargement of the lateral ventricle is associated with enlargement of the lateral ventricles after birth, as well as greater gray matter volumes and delayed or abnormal maturation of white matter. It is suggested that prenatal ventricle volume is an early structural marker of altered development of the cerebral cortex and may be a marker of risk for neuropsychiatric disorders associated with ventricle enlargement.
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Affiliation(s)
- John H Gilmore
- Schizophrenia Research Center and the Department of Psychiatry, School of Medicine, University of North Carolina, Chapel Hill, NC 27599-7160, USA.
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33
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Morris JE, Rickard S, Paley MNJ, Griffiths PD, Rigby A, Whitby EH. The value of in-utero magnetic resonance imaging in ultrasound diagnosed foetal isolated cerebral ventriculomegaly. Clin Radiol 2007; 62:140-4. [PMID: 17207696 DOI: 10.1016/j.crad.2006.06.016] [Citation(s) in RCA: 49] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/17/2006] [Revised: 06/23/2006] [Accepted: 06/29/2006] [Indexed: 10/23/2022]
Abstract
AIM To assess whether magnetic resonance imaging (MRI) is a useful adjunct to ultrasound (US) when imaging cases of foetal isolated cerebral ventriculomegaly. To assess whether, in such cases, ventricular morphology is a useful indicator for the underlying pathology, as has recently been suggested. MATERIALS AND METHODS A retrospective analysis was undertaken of 30 cases of isolated ventriculomegaly diagnosed using US and referred for in utero MRI. The gestational age of each case was noted and the MRI report. Both ventricles were measured and each case was categorized according to severity and morphology. The MRI report was compared to the final diagnosis. RESULTS Of the 30 cases evaluated 18 had mild ventriculomegaly (<15 mm; gestational age range 20-31 weeks, mean 22.8, median 22) and 12 had severe ventriculomegaly (>15 mm; gestational age range 21-37 weeks, mean 28, median 28.5). Additional abnormalities were found in 50% of cases overall (44% mild, 58% severe) using MRI. CONCLUSIONS Using MRI additional abnormalities were identified in 50% of the foetuses. The morphology of the cases did not suggest underlying pathology in this group. In utero MRI is a useful adjunct to US in cases of foetal cerebral ventriculomegaly referred after initial diagnosis using US.
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Affiliation(s)
- J E Morris
- Section of Academic Radiology, Royal Hallamshire Hospital, University of Sheffield, UK
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34
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Sonographic examination of the fetal central nervous system: guidelines for performing the 'basic examination' and the 'fetal neurosonogram'. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2007; 29:109-116. [PMID: 17200992 DOI: 10.1002/uog.3909] [Citation(s) in RCA: 397] [Impact Index Per Article: 22.1] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/13/2023]
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Parilla BV, Endres LK, Dinsmoor MJ, Curran L. In utero progression of mild fetal ventriculomegaly. Int J Gynaecol Obstet 2006; 93:106-9. [PMID: 16549067 DOI: 10.1016/j.ijgo.2006.01.026] [Citation(s) in RCA: 25] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/29/2005] [Revised: 01/24/2006] [Accepted: 01/25/2006] [Indexed: 11/28/2022]
Abstract
OBJECTIVE To evaluate the progression in utero of mild isolated fetal ventriculomegaly (defined as a transverse diameter of the atrium of the lateral ventricle measuring between 10 and 15 mm), and to estimate the proportion of fetuses that normalize (diameter decreasing to less than 10mm), stabilize (remaining between 10 and 15 mm), or progress to more severe ventriculomegaly (becoming greater than 15 mm). METHODS The obstetric databases of 3 institutions were queried for any studies mentioning ventriculomegaly or hydrocephalus. Reports and original images were reviewed to verify cases of isolated mild ventriculomegaly, with no other anomalies on comprehensive ultrasonographic examination. Fetuses that had 2 or more evaluations more than 3 weeks apart were included. RESULTS A total of 63 fetuses met the criteria for isolated mild ventriculomegaly. The mean gestational age and ventricular measurements were 24.7+/-3.7 weeks and 11.8+/-1.1mm, respectively, at the initial scan and 34+/-2.9 weeks and 12.1 +/-3.8mm, respectively, at the final scan. The mean number of scans was 3.75 per fetus (range, 2-6). Amniocentesis revealed the deletion of 5p, which causes the cri du chat, in 1 of 21 fetuses; 26 fetuses (41%) showed normalization of the lateral ventricles; 10 fetuses (16%) showed progression; and 27 (43%) appeared stable. shows the statistics of the individual groups. Three of the fetuses that "stabilized" improved from 15 mm to 11, 11.5, and 11.7 mm, respectively. Two worsened from 10.2 to 14 mm and from 11.4 to 13 mm. CONCLUSIONS More than 40% of the cases of mild isolated fetal ventriculomegaly resolved in utero. The significant overlap in measurements for the different groups precludes prediction in individual cases. However, of the 13 cases where the transverse diameter measured 13 mm or more, only 1 normalized, while 9 of the remaining 12 cases stabilized and 3 progressed.
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Affiliation(s)
- B V Parilla
- Department of Obstetrics, Section of Maternal-Fetal Medicine, Lutheran General Hospital, Park Ridge, IL 60068, USA.
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Abstract
Prenatal ultrasound evaluation of the fetal brain requires documentation of specific structures according to guidelines set by the American College of Radiology and the American Institute of Ultrasound in Medicine. Among these required structures are: cerebellum, cisterna magna, lateral cerebral ventricles, choroid plexus, midline falx, and cavum septum pellucidum. All these structures can be visualized in three crucial planes of imaging that include cisterna magna/cerebellum, cavum septum pellucidum, and ventricular atria. A systematic approach can be achieved by instituting a protocol that includes these three basic levels of imaging of the fetal head. These anatomical levels should be incorporated in daily routine for complete obstetric ultrasound evaluation.
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