To evaluate the effectiveness of combining sociodemographic factors, circulating endothelial growth factor-1 (sFlt-1), cancer antigen 125 (CA125), placental growth factor (PLGF), along with ultrasound measurements of crown-rump length (CRL), and fetal heart rate (FHR) in assessing the risk of spontaneous abortion, and to develop a predictive model for miscarriage risk.

Between 2020 and 2023, we conducted a prospective observational study involving 235 pregnancies. Participants were divided into 2 groups - viable pregnancies and miscarriage before the 14th week of gestation. We recruited all patients at 6.0 to 6.6 weeks of gestation. At that point, demographic data was collected, and the first measurements of CRL and FHR were performed. Blood samples were taken for sFlt-1, PLGF, and CA125 analysis. Consequent visits were appointed every 2 weeks, which included a US scan and repeated blood serum tests. The outcome variable was early pregnancy loss, defined by the occurrence of spontaneous abortion (SA) before 14 weeks of gestation.

Our study has shown that in cases with first-trimester pregnancy loss, the FHR and sFlt-1 were consistently decreased, while MA and CA125 were increased. We observed that a combination of MA, FHR, CRL, CA125, and sFlt-1 can reliably identify singleton pregnancies at risk of spontaneous abortion before 14 weeks of gestation. Each additional variable substantially improved the prediction characteristics, suggesting a good stepwise discriminatory performance of the overall model. The combination of all variables achieved a DR of 73,53 %, and more importantly - clinically feasible Positive Predictive Value (PPV) of 75,81 %, and high Negative Predictive Value (NPV = 94,75 %) levels.

Combining maternal age, FHR, CA125, and sFlt-1 can reliably identify singleton pregnancies at risk of spontaneous abortion before the 14th week of gestation. To our best knowledge, this is the first SA prediction model combining CA125 and sFlt-1 serum markers with well-established US modalities and demographic characteristics. External validation would be required before adopting the proposed prediction model in clinical practice.

We explore biases present in publicly available fetal ultrasound (US) imaging datasets, currently at the disposal of researchers to train deep learning (DL) algorithms for prenatal diagnostics. As DL increasingly permeates the field of medical imaging, the urgency to critically evaluate the fairness of benchmark public datasets used to train them grows. Our thorough investigation reveals a multifaceted bias problem, encompassing issues such as lack of demographic representativeness, limited diversity in clinical conditions depicted, and variability in US technology used across datasets. We argue that these biases may significantly influence DL model performance, which may lead to inequities in healthcare outcomes. To address these challenges, we recommend a multilayered approach. This includes promoting practices that ensure data inclusivity, such as diversifying data sources and populations, and refining model strategies to better account for population variances. These steps will enhance the trustworthiness of DL algorithms in fetal US analysis.

To evaluate the efficacy of first-trimester non-biochemical screening using the Fetal Medicine Foundation (FMF) algorithm in predicting fetal common trisomies (trisomy 21, 18, and 13) in clinical practice.

Between 2011 and 2023, the non-biochemical screening was routinely performed at 11+0-13+6 weeks' gestation in 9591 singleton pregnancies at Maharaj Nakorn Chiang Mai Hospital, Thailand. The individual risks for common fetal trisomies were calculated by combining maternal age, history of common trisomies in a previous pregnancy, nuchal translucency thickness, and fetal heart rate using the official FMF algorithm. Women with risk of ≥1:250 were classified as high risk. The fetal karyotyping results and pregnancy outcomes were reviewed and analyzed.

A total of 8491 complete data sets of singleton pregnancies were analyzed. The incidence of common trisomies was 0.5% (46 cases), including 0.3% (28 cases) of trisomy 21, 0.1% (9 cases) of trisomy 18 and 0.1% (9 cases) of trisomy 13. With a cut-off risk of 1:250, FMF algorithm performance for trisomy 21 screening had a sensitivity of 60.7%, specificity of 97.6%, PPV of 7.7%, NPV of 99.9%, and a false positive rate of 2.4%. The performance for detecting all common trisomies demonstrated a sensitivity of 52.2%, specificity of 97.2%, PPV of 9.2%, NPV of 99.7%, and a false positive rate 2.8%.

The first trimester non-biochemical FMF algorithm is sufficiently effective in predicting common trisomies, particularly trisomy 21. This simple approach can be easily implemented in clinical practice, including healthcare facilities that lack access to maternal blood testing services.

To examine the impact of a new image enhancement technique on the distribution of NT measurements.

In this retrospective study, nuchal translucency (NT) images that were taken with the GE Voluson E22 ultrasound machine between May and September 2024 were collected. One operator took manual and automated NT measurements in an NT image without radiant enhancement mode followed by automated measurements in NT images with minimum, medium and maximum radiant mode. The automated measurement in the NT images without radiant mode were considered gold standard. The relative bias of the gold standard, the manual measurement and the automated measurements with the radiant enhancement technology were compared using median and 25-75th interquartile range as well as by the Wilcoxon test.

The database search yielded 352 NT images from 101 pregnant women. Average maternal age of the study population was 34.0 years and average crown-rump length was 68.3. The median NT thickness was 1.7 mm for both the manual and automated measurements done without the use of radiant mode. The median automated measurement with minimum, medium and maximum radiant mode was 2.00, 2.05 and 2.10 mm, respectively. All automated measurements were significantly higher than the gold standard.

The use of the radiant mode results in an increase in the NT thickness. This effect should be taken into account when calculating the risk for chromosomal abnormalities.

First-trimester US is imperative in evaluation of early pregnancy to confirm pregnancy location and number and gestational age. The 2024 Society of Radiologists in Ultrasound consensus conference established a first-trimester lexicon to highlight the importance of clear and concise language, which is incorporated and featured by the authors. With improved technologies and understanding of fetal development, first-trimester anatomic studies, between 11 weeks and 13 weeks 6 days gestation, are becoming more frequently used. While not a replacement for the second-trimester anatomic study, systematic evaluation of fetal anatomy at this early gestational age allows detection of 40%-70% of anomalies, whether structural or related to aneuploidy. All patients, regardless of age or baseline risk, should be offered screening and diagnostic testing for chromosomal abnormalities. A variety of prenatal screening approaches are available, each with strengths and limitations. Noninvasive prenatal testing with detection of fetal cell-free DNA can be performed in the first trimester and is the most sensitive and specific screening for the common fetal aneuploidies, but is not equivalent to diagnostic testing. Alternatively, serum analytes for maternal biomarkers in conjunction with nuchal translucency (NT) measurement can be used to calculate a risk estimate for common trisomies. Increased NT is the most common abnormality seen in the first trimester. Positive screening results, increased NT, or other anomaly at US should prompt genetic counseling and be confirmed with diagnostic testing (chorionic villus sampling or amniocentesis). Early detection of aneuploidy and structural anomalies allows counseling and informs decisions for pregnancy management. ©RSNA, 2025 Supplemental material is available for this article.

Congenital megalourethra is a rare disorder that causes functional urinary tract obstruction. A multigravida at 16 weeks' gestation referred for an abdominal cyst was found to have a large urinary bladder along with another dilated cystic structure between the fetal legs (sandwich sign), bilateral echogenic kidneys, and anhydramnios, features suggestive of congenital megalourethra. Medical termination of pregnancy was performed. The male abortus was noted to have a massively distended bladder and a dilated penile urethra. Another patient referred in view of suspected bladder outlet obstruction was diagnosed to have a megalourethra on imaging at our center using the sandwich sign. In severe oligohydramnios the "sandwich sign" helps in "ruling in" the diagnosis of megalourethra and ruling out the common differential diagnosis of a posterior urethral valve.

In the previous published reviews Part 1 and Part 2, we examined the association between placental and umbilical cord anomalies in relation to adverse perinatal outcomes. In this conclusive Part 3, only umbilical cord vascular anomalies are considered, together with the perinatal effects caused by maternal vascular malperfusion and the secondary fetal vascular malperfusion anomalies. Specifically, the review comprises the following umbilical cord pathologies: umbilical cord torsion/stricture, amniotic band syndrome and umbilical cord strictures/strangulation, umbilical cord hemorrhagic cyst, umbilical cord rupture/cord hemangioma, umbilical cord hematoma, and umbilical cord ulceration. A series of case presentations and a gallery of images have been included to illustrate this final review.

To evaluate the accuracy of fetal biparietal diameter (BPD) measurement in comparison with crown-rump length (CRL) measurement for pregnancy dating at 11-13 weeks' gestation.

This was a retrospective multicenter cohort study performed in five maternity units in Spain, the UK, Belgium and Bulgaria between January 2011 and December 2019. We included all women who attended a routine ultrasound examination at 11 + 0 to 13 + 6 weeks who had a singleton pregnancy with a viable non-malformed fetus/neonate and ultrasound-derived measurements for both CRL and BPD, along with a comprehensive record of pregnancy outcomes. We developed a formula for pregnancy dating based on BPD using data from pregnancies conceived via in-vitro fertilization (IVF) by applying a simple linear regression. We validated this formula both internally and externally and compared it with the most commonly used formulae (Robinson's CRL-based and Kustermann's BPD-based formulae) through utilization of the Euclidean distance, relative absolute error and mean squared error. We also examined the rate of induction of labor for post-term pregnancy based on dating using each of the formulae.

A total of 49 492 women were included in the study, comprising 47 223 (95.4%) who conceived spontaneously and 2269 (4.6%) who conceived via IVF. In the internal validation performed using data from IVF pregnancies, our newly developed formula showed no significant difference when compared with the true gestational age calculated using conception date, with a mean difference of 0.0006 (95% CI, -0.09 to 0.09) days. In contrast, the mean difference of Kustermann's BPD-based formula was -0.31 (95% CI, -0.46 to -0.17) days and the mean difference of Robinson's CRL-based formula was -1.78 (95% CI, -1.88 to -1.68) days. In the external validation using data from spontaneously conceived pregnancies, with dating using Robinson's formula as the reference for 'true' gestational age, both our formula and Kustermann's formula resulted in underestimation of gestational age, with significant mean differences of -1.25 (95% CI, -1.28 to -1.22) days and -0.96 (95% CI, -0.98 to -0.93) days, respectively. The largest differences compared with Robinson's formula-based dating results were observed between 11 + 0 and 12 + 0 weeks. Dating the pregnancy using Robinson's formula led to 8.1% of pregnancies identified as requiring induction after 41 + 3 weeks, compared with 6.8% (P < 0.001) and 7.0% (P < 0.001) when applying our formula and Kustermann's formula, respectively.

Pregnancy dating based on ultrasound measurement of fetal BPD between 11 + 0 and 13 + 6 weeks' gestation is a reliable alternative to dating based on fetal CRL. © 2025 International Society of Ultrasound in Obstetrics and Gynecology.

This study aims to systematically describe eye malformations and correlate these with extraocular findings. Based on these findings, we propose a protocol for ultrasound evaluation of the fetal eye.

In this multicentric retrospective cohort study, 264 fetuses with ocular malformations from two tertiary referral centers for prenatal medicine were analyzed. Anophthalmia, microphthalmia, exophthalmos, hyper- or hypotelorism, cataract, aphakia, cyclopia, and retinal detachment were assessed, and their association with extraocular findings and genetic changes was investigated.

The majority of the cases (99.2%) were non-isolated and presented further extraocular findings. Most commonly, the brain and central nervous system (65.9%), the limbs and the heart (46.6% each) and the cranial anatomy (41.2%) were affected. Significant associations were found between exophthalmos and anomalies of the fetal skeletal system (OR = 4.8, 95% CI 1.6-14) and cranial malformations (OR = 3.3, 95% CI 1.5-7.4). Hypotelorism showed an increased risk of cardiac anomalies (OR = 1.8, 95% CI 1.1-3.5) and brain malformations (OR = 2.16, 95% CI 1.2-4.1), with holoprosencephaly being the most common one. Fetuses with microphthalmia were more likely to have anomalies in the renal system (OR = 2.3, 95% CI 1.2-4.3). In 51.4% of the cases, a genetic aberration could be found, among them most frequently trisomy 13.

There is a significant association between specific fetal eye anomalies and certain extraocular anomalies, as well as genetic changes. Systematic evaluation of the eye using the proposed protocol is simple to learn and highly reproducible and could help to concentrate diagnosis on a certain group of malformations. Data from this study could help to develop targeted diagnostic molecular tools.

Congenital heart defects (CHDs) are among the most prevalent congenital anomalies and are frequently detected in pregnancies classified as low-risk, rather than in high-risk groups. Advancements in ultrasound technology have heightened the emphasis on first-trimester fetal cardiac screening. However, due to the small size of the fetal heart at this stage, significant challenges persist, underscoring the need for simplified and reproducible protocols that can be effectively applied on a population-wide scale.

This paper describes a screening approach centred on the four-chamber view (4CV) and three-vessel tracheal view (3VTV) with colour Doppler imaging. This includes optimisation of ultrasound machine settings and the use of transabdominal and transvaginal approaches to enhance visualisation.

Evidence demonstrates a CHD detection rate of 76% in low-risk populations, with a 95% success rate in obtaining the necessary views.

Operator expertise and familiarity with cardiac anomalies are critical for accurate detection. The early identification of CHDs enables informed decision-making regarding pregnancy management. A simplified protocol for first-trimester cardiac screening offers a promising tool for the early identification of CHDs, enabling timely referral and intervention. To optimise detection rates and clinical outcomes, continuous professional education and systematic auditing processes are indispensable for practitioners performing early fetal cardiac screening.

Adolescent pregnancy, defined as pregnancy in females aged 19 or younger, is associated with higher risks for adverse outcomes compared to older women. Ultrasound imaging during the mid-trimester is crucial for prenatal care, providing insights into fetal development and maternal health.

The primary aim of this study is to evaluate and compare mid-trimester ultrasound findings between adolescent and older pregnant women and to assess the prevalence and risk of any abnormalities detected during ultrasound examinations.

This retrospective study was conducted in the Silesian Voivodeship, Poland, from January 1, 2004, to February 29, 2024. Data were collected from reference prenatal centers. The study included 37,366 individuals, of which 1,152 were adolescents. Participants underwent second-trimester prenatal screening, and ultrasound findings were categorized into fetal abnormalities and maternal factors.

The study found significant differences in ultrasonographic findings across different age groups. Adolescent pregnancies showed a higher prevalence of fetal abnormalities, 437.075 per 1,000 pregnancies (95% CI: 409-465). Brain, spine, facial, heart, and urinary tract abnormalities were notably higher in group adolescents.

Adolescent pregnancies are associated with increased detection of various fetal abnormalities during mid-trimester ultrasound scans. Contrary to common belief, the young age of adolescent pregnant individuals does not protect against fetal abnormalities. These findings underscore the necessity for comprehensive, population-based ultrasound screening for pregnant adolescents and the classification and management of adolescent pregnancies as high-risk.

To evaluate the efficacy of prenatal ultrasound in diagnosing pulmonary atresia with intact ventricular septum (PA/IVS).

This retrospective study analyzed 48 cases of PA/IVS at the Fujian Maternity and Child Health Hospital between January 2013 and December 2023. Prenatal ultrasound was used to characterize and classify the features of PA/IVS. Pregnancy outcomes were followed up, and the results were compared with post-termination pathological anatomical findings or postnatal imaging. This study aims to enhance the understanding of PA/IVS and improve the accuracy of its prenatal diagnosis.

Among the 48 PA/IVS cases, four were diagnosed during early pregnancy and 44 during mid-to-late pregnancy. In the mid-to-late pregnancy group, there were 29 cases of type I (TV-Z scores ranging from - 1.77 to 5.22), 10 cases of type II (TV-Z scores ranging from - 3.50 to -2.06), and five cases of type III (TV-Z scores ranging from - 4.29 to -7.41). The cohort included 41 singleton pregnancies and seven twin pregnancies. Ventriculo-coronary artery communication (VCAC) was observed in 19 cases. Additional abnormalities included Ebstein's anomaly (EA) in three cases, restricted opening of the foramen ovale in one case, increased inner diameter of the foramen ovale in one case, reversal or deepening of the a-wave of the ductus venosus in six cases, and umbilical vein pulsation in one case. Genetic testing (amniocentesis, NIPT, or SNP-array) was performed in 19 cases, with one case revealing a genomic copy number deletion in the q22.3 region of chromosome 21. Pregnancy outcomes included 41 terminations (five with pathologic dissection or vascular casting), five live births, one selective reduction, and one intrauterine death.

Fetal echocardiography is an effective tool for diagnosing PA/IVS. While PA/IVS can be diagnosed in early gestation, it remains diagnostical challenging. Given the progressive nature of PA/IVS in utero, sequential ultrasound examinations during the second and third trimesters are essential for monitoring disease progression and hemodynamic changes. Additionally, a comprehensive evaluation for associated intracardiac and extracardiac anomalies should be systematically conducted throughout the pregnancy.

The aim of this study was to describe the sonographic appearance of posterior fossa anomalies in fetuses at 11-13+6 weeks' gestation.

This prospective study included 60 healthy fetuses and 15 fetuses with an abnormal posterior brain at 11-13+6 weeks' gestation. All three-dimensional images were processed using multiplanar image correlation to view the posterior fontanelle in the midsagittal views. The final diagnosis of all fetuses was confirmed using second-trimester ultrasonography, fetal magnetic resonance imaging, and/or genetic testing.

The brainstem morphology, fourth ventricle, choroid plexus of the fourth ventricle, vermis, and physiologic Blake pouch were clearly visualized at 11-13+6 weeks' gestation through the posterior fontanelle from the midsagittal view. Among the 15 fetuses analyzed, two had abnormal brainstem morphology, which was subsequently diagnosed as Walker-Warburg syndrome. The remaining 13 fetuses were diagnosed with posterior fossa cystic malformations (Dandy-Walker malformation, 2 fetuses; Blake's pouch cyst, 2 fetuses; Noonan syndrome, 1 fetus; trisomy 21, 2 fetuses; trisomy 18, 1 fetus; and transient dilatation of the fourth ventricle, 5 fetuses). The extended anterior membranous area and dysplastic vermis were strong markers of Dandy-Walker malformation. In fetuses with Blake pouch cysts, the vermis was visible, with the choroid plexus of the fourth ventricle located backward.

Sonography enables clear visualization of morphological changes in posterior fossa anomalies at 11-13+6 gestational weeks. An extended anterior membranous area, dysplastic vermis, and abnormal brainstem morphology are direct signs of early recognition of severe posterior fossa anomalies.

Fetal skeletal abnormalities can be caused by various factors and genetic cause plays an important role. Prenatal exome sequencing (ES) has been shown to be a powerful approach for accurate prenatal molecular diagnoses. Diagnostic yield of ES in fetal skeletal abnormalities varies significantly across studies. This study aimed to perform a systematic review of the literature and meta-analysis to assess the incremental yield of ES in fetuses with different kinds of skeletal abnormalities and a negative result on chromosome microarray or karyotyping.

The PubMed, Embase, Web of Science, and Cochrane Library databases were systematically searched up to November 26, 2022. Relevant data were collected from observational studies containing five or more cases of skeletal abnormalities who underwent ES. The incremental yield of ES was evaluated by single proportion analysis and 95% confidence interval (CI), both according to the article features and individual phenotypes. This study was registered on PROSPERO as CRD42022382800.

Twenty-six studies including 524 individuals met the inclusion criteria. The pooled incremental yield was 60.2% (95% CI, 53.4%-66.9%) for all fetuses with skeletal abnormalities. In subgroup analysis, the additional diagnostic yield was 83.9% (95% CI, 76.4%-90.4%) in isolated dysplasia cases (group I), 52.0% (95% CI, 32.9%-70.9%) in dysplasia with non-skeletal abnormalities cases (group II), 33.3% (95% CI, 19.3%-48.6%) in isolate dysostoses cases (group III), 47.8% (95 % CI, 35.8%-60.0%) in dysostoses with non-skeletal abnormalities cases (group IV), 83.0% (95% CI, 63.7%-97.1%) in combination of the two phenotypes without non-skeletal abnormalities cases (group V), 74.5% (95% CI, 54.9%-90.9%) in combination of the two phenotypes with non-skeletal abnormalities cases (group VI). The origin of the pathogenic variations differed among the groups. Most causative variants were de novo in groups I (97/133, 72.9%), V (14/23, 60.9%), and VI (15/26, 57.7%). Meanwhile, pathogenic variations in III (18/25, 72.0%) and IV (37/67, 55.2%) were more often inherited from a parent.

ES had a favorable incremental yield in fetuses with skeletal abnormalities. The common pathogenic variations and genetic patterns of skeletal abnormalities vary among different subtypes. Interpreting this difference is beneficial for personalized clinical consultation.

To assess the performance of a standardized first-trimester ultrasound screening strategy for fetal congenital heart disease (CHD).

This was a large retrospective study involving 74 839 consecutive mixed-risk pregnancies (77 396 fetuses). Routine ultrasound scans at 11 + 0 to 13 + 6 weeks' gestation were performed in a single center from January 2015 to June 2023. All fetuses were examined using a predefined standardized ultrasound scanning strategy with adjustment of imaging parameters, which included assessment of the fetal heart. The ultrasound results (e.g. extracardiac congenital malformations), ultrasound markers (e.g. nuchal translucency thickening, reversed a-wave in the ductus venosus and tricuspid regurgitation), follow-up, genetic tests and diagnostic results were recorded and analyzed.

In total, there were 831 cases of CHD, with an incidence of 1.07% (831/77 396). In the first-trimester scan, 590 fetuses were diagnosed with CHD, but four were confirmed as normal in later examinations. In addition, 245 cases were missed. The detection rate was 70.52%, with a sensitivity, specificity, false-positive rate and false-negative rate of 70.52%, 99.99%, 0.01% and 29.48%, respectively. In fetuses with negative ultrasound markers and no extracardiac malformations, the detection rate of CHD was 45.79% (185/404). There were 281 cases that underwent karyotyping and chromosomal microarray (245 fetuses) or whole-exome sequencing (36 fetuses). In total, 38.79% (109/281) had a positive genetic test result. There were 273/831 CHD cases associated with extracardiac malformations. The abnormal image patterns and abnormal features of each view in the scanning strategy were summarized.

Ultrasound screening for fetal CHD in the first trimester of pregnancy enables earlier prenatal diagnosis and consultation. The standardized ultrasound screening strategy used in this study had a high detection rate for fetal CHD in the first trimester. Our proposed fetal heart screening strategy shows promising effectiveness for early diagnosis of CHD and we recommend its use. It is important to note, however, that first-trimester ultrasound screening for fetal CHD should not replace fetal echocardiography in the second trimester. © 2025 International Society of Ultrasound in Obstetrics and Gynecology.

Regular auditing of ultrasound images is required to maintain quality; however, manual auditing is time-consuming and can be inconsistent. We therefore aimed to develop and validate an artificial intelligence-based image quality audit (AI-IQA) system to audit images from the four key planes used in first-trimester scanning.

The AI-IQA system was developed based on the YOLOv7 structure detection network and a multi-branch image quality regression network using a large multicenter internal dataset. Clinical validation was performed using 567 cases scanned by four radiologists with different experience levels, of which 349 were performed without AI-IQA feedback (clinical test set 1) and 218 were performed after 2-3 rounds of AI-IQA feedback (clinical test set 2). The proportion of standard images obtained and detailed expert audit results were compared to verify whether AI-IQA could objectively and accurately provide feedback on deficiencies in nonstandard images to assist radiologists at different experience levels in improving image quality.

In the internal test set, the AI-IQA system achieved high average accuracy precision, recall and F1-score in auditing the overall plane quality (0.881, 0.833, 0.842 and 0.837, respectively) and structure quality (0.906, 0.861, 0.857 and 0.859, respectively). In clinical test sets 1 and 2, AI-IQA results showed strong consistency with expert assessment results, with the average Cohen's Kappa coefficient exceeding 0.8 for all four planes. In addition, following AI-IQA feedback, the proportion of standard images obtained by junior and mid-level radiologists increased by 7.7% and 5.1%, respectively. AI-IQA takes only 0.05 s to assess each image, while experts require more than 20 s (p < 0.001).

The proposed AI-IQA system proved to be a highly accurate and efficient method of automatically auditing first-trimester scanning image quality, providing precise and rapid key plane quality control. This tool can also assist radiologists with different levels of experience to improve the image quality.

Hypoplastic left heart syndrome is a severe congenital defect involving underdeveloped left-sided cardiac structures, leading to significant mortality and morbidity. Prenatal diagnosis using fetal ultrasound and echocardiography enables early detection, family counseling, and improved clinical decision-making. Advanced prenatal interventions, such as fetal aortic valvuloplasty and atrial septostomy, show promise but require careful patient selection. A multidisciplinary approach involving obstetricians, neonatologists, and pediatric cardiologists is vital for effective management. Future directions include refining imaging techniques, such as three-dimensional ultrasound, cardiovascular magnetic resonance imaging, and exploring bioengineering solutions, stem cell therapies, and genetic research. These advancements aim to improve therapeutic options and address current limitations, including transplant scarcity and postoperative complications. Although surgical innovations have improved survival rates, challenges remain, including neurological risks and long-term hemodynamic issues. Ongoing research and technological advancements are essential to enhance outcomes and quality of life for hypoplastic left heart syndrome patients.

Prenatal genomic sequencing, which can provide a significantly increased diagnostic rate for fetal structural anomaly (FSA) compared with karyotype and microarray, is not available uniformly across Australia. PreGen, a 5-year translational research program, has identified significant barriers to implementation including access to funding, the availability of genomic testing, access to termination of pregnancy services and the availability of specialist genomic centres. A federal item number for prenatal genomic testing would increase equitable test availability and reduce delays to diagnoses by making them in pregnancy whilst removing the need for low-yield diagnostic interventions and enabling personalised patient management and family support.

Background/Objectives: Congenital heart disease (CHD) is the most common birth defect, an important cause of morbidity and mortality, with a reported prevalence of 5-12 per 1000 live births. The aim of our study was to identify the role of fetal morphological ultrasound examination in the first and second trimester of pregnancy in the detection of fetal congenital cardiac anomalies in a low-risk population. Methods: We performed a retrospective study in a tertiary fetal medicine center in Emergency Hospital Craiova, Romania. The longitudinal analysis combined first- and second-trimester screening using improved ultrasound protocols. Our study evaluated 8944 pregnant women with singleton pregnancies in a 6-year period between January 2018 and December 2023. All ultrasound examinations were performed using a standard extended protocol according to the main guidelines' recommendations for the detection of fetal anomalies. Results: In the first trimester of pregnancy, 37 cases with cardiac anomalies were diagnosed. Thirteen of these cases were associated with genetic anomalies (Down syndrome-eight cases, Edwards syndrome-four cases, Turner syndrome-one case). Some of these pregnancies were associated with at least one of the minor ultrasound markers (inverted ductus venosus, abnormal flow in the tricuspid valve, presence of choroid plexus cysts, absent/hypoplastic nasal bone). In the second trimester of pregnancy, 17 cases of cardiac anomalies were diagnosed. From these cases, one was associated with genetic anomalies (DiGeorge Syndrome), and one case developed hydrops and delivered prematurely in the early third trimester. Conclusions: Ultrasound screening for the detection of congenital heart disease is feasible early in pregnancy, but some anomalies would be obvious later in pregnancy. An early diagnosis using an extended ultrasound protocol, genetic testing, and a multidisciplinary evaluation would improve the prognosis and the overall survival rate by delivering in a tertiary center that allows for rapid cardiac surgery in dedicated cases.

To evaluate the usefulness of first-trimester crown-rump length (CRL) and nuchal translucency (NT) thickness discordance in predicting adverse outcomes in monochorionic diamniotic (MCDA) twin pregnancies.

This retrospective cohort study enrolled MCDA twin pregnancies in which CRL and NT were measured at 11-13+6 weeks of pregnancy and collected for pregnancy outcomes between January 2022 and June 2023 at Tu Du Hospital in Vietnam. The intertwin discrepancy of CRL and NT was calculated as a percentage of the larger fetuses and smaller fetuses. Regression analysis was used to determine the significance of the association between the intertwin discordance in NT and CRL and the development of twin-to-twin transfusion syndrome (TTTS), fetal growth restriction (FGR), intrauterine fetal demise (IUFD), and those with normal outcomes. Receiver operating characteristic curves were constructed to evaluate the performance of inter-twin discrepancy in the prediction of FGR, TTTS, and IUFD.

A total of 294 MCDA twin pregnancies were studied. Among them, 149 cases (50.7%) had at least one adverse outcome. The complications included TTTS in 82 cases (55.0%), FGR in 89 cases (59.7%), one IUFD in 95 cases (63.8%), and two IUFDs in 19 cases (12.8%). CRL discordance greater than 10.0% and NT discordance greater than 20.0% were not related to TTTS and IUFD, only to FGR. A CRL discordance greater than 20.0% decreased the survival rate of fetuses. CRL discordance greater than 10.0% had specificity in diagnosing TTTS, IUFD, and FGR of more than 80%, whereas, NT discordance greater than 20.0% had specificity in detecting these complications of more than 50.0%. A predictive model including CRL and NT discordance showed a poor value with area under the curve of:0.69 (95% confidence interval 0.69-0.75).

In MCDA twin pregnancies, discordant CRL greater than 10.0% was related to FGR. Meanwhile, an intertwin discordance of NT thickness greater than 20.0% was not related to TTTS, FGR, and IUFD. However, adequate surveillance is still required.

Fetal growth restriction (FGR) is a major determinant of perinatal morbidity and mortality. Our study aimed to develop a prediction model for the risk of FGR developing adverse perinatal outcome (APO) and evaluate its performance.

This was a prospective observational cohort study of consecutive singleton gestations meeting the ACOG-endorsed criteria for FGR from January 2022 to June 2023 at Obstetrics and Gynecology Hospital of Fudan University. Clinical information, ultrasound indicators and serum biomarkers were collected. The primary composite APO comprised one or more of: perinatal death, intrauterine demise, intraventricular hemorrhage, periventricular leukomalacia, seizures, necrotizing enterocolitis, neonatal respiratory distress syndrome, sepsis and the length of stay in the neonatal intensive care unit > 7 days. Least absolute shrinkage and selection operator regression was used to screen variables for nomogram model construction. The discrimination, calibration and clinical effectiveness of the nomogram were evaluated using receiver operating characteristic curve, calibration plots and decision curve analysis in training and validation cohorts.

A total of 122 pregnancies were enrolled in the final statistical analysis. Five variables were identified to establish a nomogram, including gestational weeks at diagnosis, abnormal umbilical artery Doppler, abnormal uterine artery Doppler, and multiples of the median values of placental growth factor and soluble fms-like tyrosine kinase-1. The area under the receiver-operating-characteristics curve of 0.87 (95% CI, 0.75-0.99) and 0.86 (95% CI, 0.74-0.98) in the training and validation cohort respectively, indicated satisfactory discriminative ability of the nomogram. The calibration plots showed favorable consistency between the nomogram's predictions and actual observations. Decision curve analysis supported its practical value in a clinical setting.

A nomogram was developed and validated to possess the promising capacity of predicting APO in FGR-afflicted neonates, and may prove useful in counseling and management of pregnancies complicated by FGR.

To determine the significance of polydactyly identified on prenatal ultrasonography and provide a detailed analysis of characteristics and perinatal outcomes of fetal polydactyly.

This is a retrospective cohort study of pregnancies with a postnatal diagnosis of fetal polydactyly between January 2016 and December 2023. The population was divided into 2 groups at postnatal diagnosis: the isolated polydactyly group and the nonisolated polydactyly group. Clinical data, prenatal ultrasonography, related genetic results, and postnatal outcomes were obtained.

Our study cohort comprised 328 fetuses with polydactyly. The overall detection rate of polydactyly by prenatal ultrasound was 19.2%, and the first detection rate in the first-, second-, and third-trimester were 0.9%, 14.6%, and 3.7%, respectively. Preaxial polydactyly (PPD) of hand was the most common type and the most common type of foot polydactyly was postaxial polydactyly (PAP) both in the isolated group and in the nonisolated group; the central polydactyly is rare. Syndactyly was the most common abnormality complicated with polydactyly. Between the nonpolydactyly group, the isolatedpolydactyly group and the nonisolated polydactyly group, there was a significant difference in perinatal outcome (P < .001).

The second trimester is the best gestational age for prenatal ultrasound detection of polydactyly. Polydactyly of hand was more likely PPD, while polydactyly of foot was more likely PAP. When polydactyly is detected by routine prenatal ultrasound, detailed ultrasound examination and prenatal counseling should be performed to determine the possibility of an underlying genetic syndrome.

The incidence of multiple pregnancies has increased worldwide recently and women with a twin pregnancy are at higher risk of adverse outcomes compared with women with a singleton pregnancy. It is important to understand the risk factors for adverse fetal outcomes in twin pregnancy in order to guide clinical management.

To identify the independent risk factors, including maternal personal and family medical histories and first trimester ultrasound screening findings, for adverse fetal outcomes of twin pregnancy before 28 weeks of gestation.

The data of 126 twin pregnancies in our hospital, including pregnancy outcomes, first trimester ultrasound screening findings and maternal medical history, were retrospectively collected. Twenty-nine women with adverse outcomes were included in the abnormal group and the remaining 97 women were included in the control group.

Patients in the abnormal group were more likely to be monochorionic diamniotic (13/29 vs 20/97, P= 0.009), with a higher mean pulsatility index (PI, 1.57 ± 0.55 vs 1.28 ± 0.42, P = 0.003; cutoff value: 1.393) or a higher mean resistance index (0.71 ± 0.11 vs 0.65 ± 0.11, P = 0.008; cutoff value: 0.683) or early diastolic notch of bilateral uterine arteries (UtAs, 10/29 vs 15/97, P = 0.024) or with abnormal ultrasound findings (13/29 vs 2/97, P < 0.001), compared with the control group. Monochorionic diamnioticity, higher mean PI of bilateral UtAs and abnormal ultrasound findings during first trimester screening were independent risk factors for adverse fetal outcomes (P < 0.05).

First trimester ultrasound screening for twin pregnancy identifies independent risk factors and is useful for the prediction of fetal outcomes.

This study aimed to investigate the association between maternal factors and first-trimester biophysical and biochemical markers with small for gestational age (SGA) neonates in twin pregnancies (TwPs).

Single-center retrospective cohort study of TwPs followed from January 2010 to December 2022 at a tertiary perinatal center, Portugal. Maternal and pregnancy characteristics, mean arterial pressure, pregnancy-associated plasma protein-A (PAPP-A), β-human chorionic gonadotropin (β-HCG), and uterine artery pulsatility index (UtA-PI) were analyzed. Univariable, multivariable logistic regression (LR) and receiver-operating characteristic curve analyses were performed. The main outcome measures considered were: SGA < 3rd, < 5th and < 10th percentile, the composite outcome of SGA combined with preterm birth (PTB) (< 32, < 34, and < 36 weeks).

572 TwPs were included, 450 (78.7%) DC and 122 (21.3%) MC. TwPs affected with SGA < 3rd, < 5th or < 10th percentiles were 120/572 (20.9%), 157/572 (27.4%) and 190/572 (33.2%), respectively. SGA < 3rd percentile was associated with a higher rate of PTB, 59.0% of cases < 32 weeks, OR 6.4 (95% CI: 3.2-12.7, p < 0.001). Shorter maternal height, UtA-PI ≥ 95th percentile, and low PAPP-A were identified as significant independent risk factors associated with SGA and SGA combined with PTB. The best LR model was obtained for the composite outcome SGA < 3rd percentile and PTB < 32 weeks, with an AUC of 0.834, a sensitivity rate of 77%, and a false positive rate of 17%.

The majority of pregnancies at risk for SGA combined with prematurity can be detected in the first trimester. However, larger datasets are necessary to develop robust predictive models.

To assess the feasibility of using the stereo-microscope to identify the pathological anatomy of the congenital heart diseases in the first trimester.

Fifteen fetuses of 8-12 weeks aborted due to prevent miscarriage failure and 42 fetuses of 11-14 weeks with congenital heart diseases were included in the study, we dissected their hearts through a stereo-microscope, then compared with the prenatal ultrasonographic diagnosis.

Using stereomicroscopy, the positive view of the heart and the great arteries, the long axis view of the aortic arch, the inflow tract view of the bottom heart, the semilunar valve view of the bottom heart, and the transverse section of the ventricle were showed contented and obtained satisfactory images, but the structure of atrioventricular valve and venous system had a lower rate of display.

The characteristic pathological changes of cardiac inflow and outflow tract can be obtained by dissecting the heart sequential under the stereo-microscopy. However it is often difficult to obtain satisfactory pathological sections for pulmonary venous abnormalities and Ebstein anomaly.

Fetal intracranial volume (ICV) can help evaluate the development of the prenatal central nervous system (CNS) from the three-dimensional (3D) attributes of the cranial structure. Accurate and rapid segmentation and calculation of the ICV are clinically significant. Virtual organ computer-aided analysis (VOCAL) is a commonly used method for measuring fetal ICV. However, its operation is highly complex and time-consuming. This study aimed to optimize the fetal Smart ICV method at 16-19 gestational weeks, verify the consistency of automatic and manual measurement of ICV, and assess an automatic and efficient method for evaluating fetal ICV growth in the second and third trimester of pregnancy.

The ultrasound data of 950 healthy fetuses at 16-34 weeks of gestation were collected. First, the Smart ICV algorithm was optimized at 16-19 weeks. Second, the optimized Smart ICV was compared with the manual VOCAL method. Finally, growth curve and Z-score estimations for fetuses were established for growth assessment via optimized Smart ICV.

Compared with the nonoptimized version, the optimized Smart ICV yielded a lower Hausdorff distance (1.15±0.25 vs. 1.31±0.93 mm, P<0.05). Both intra- and inter-observer agreements were at a high level for ICV measurement based optimized Smart ICV [intra-observer intraclass correlation coefficient (ICC) =0.998, 95% confidence interval (CI): 0.996-0.999; inter-observer ICC =0.991, 95% CI: 0.988-0.996] and the 18 plane-VOCAL (intra-observer ICC =0.997, 95% CI: 0.995-0.998; inter-observer ICC =0.981, 95% CI: 0.979-0.991). Additionally, Bland-Altman analysis showed that the ICV data for the above two models had good agreement. Nevertheless, compared with the 18 plane-VOCAL, the optimized Smart ICV consumed less time (3.7±0.7 vs. 153.1±29.5 s, P<0.05). The best fitting model of gestational week for the Smart ICV was a cubic function, expressed as follows: y = -44.2445 + 0.1427x 2 + 0.0052x 3, where y is ICV and x is the gestational week. In addition, fetal ICV showed an accelerated growth trend in the second trimester.

The optimized Smart ICV showed excellent accuracy and efficiency in ICV measurements at 16-34 gestational weeks. Our results may help to establish a best-fit growth curve for ICV. Our findings suggest that the optimized Smart ICV method has the potential to be a reliable tool for fetal growth assessment during the second and third trimesters.

To establish reference ranges of fetal intracranial markers during the first trimester and develop the first novel artificial intelligence (AI) model to measure key markers automatically.

This retrospective study used two-dimensional (2D) ultrasound images from 4233 singleton normal fetuses scanned at 11+0-13+6 weeks of gestation at the Affiliated Suzhou Hospital of Nanjing Medical University from January 2018 to July 2022. We analyzed 10 key markers in three important planes of the fetal head. Based on these, reference ranges of 10 fetal intracranial markers were established and an AI model was developed for automated marker measurement. AI and manual measurements were compared to evaluate differences, correlations, consistency, and time consumption based on mean error, Pearson correlation analysis, intraclass correlation coefficients (ICCs), and average measurement time.

The results of AI and manual methods had strong consistency and correlation (all ICC values >0.75, all r values >0.75, and all P values <0.001). The average absolute error of both only ranged from 0.124 to 0.178 mm. AI achieved a 100% detection rate for abnormal cases. Additionally, the average measurement time of AI was only 0.49 s, which was more than 65 times faster than the manual measurement method.

The present study first established the normal standard reference ranges of fetal intracranial markers based on a large Chinese population data set. Furthermore, the proposed AI model demonstrated its capability to measure multiple fetal intracranial markers automatically, serving as a highly effective tool to streamline sonographer tasks and mitigate manual measurement errors, which can be generalized to first-trimester scanning.

The detection of a fetal abdominal cyst at the first-trimester ultrasound scan is a rare event, for which the natural history and prognosis are often unknown and unpredictable, owing to various underlying etiologies. The aim of this study was to evaluate the outcome of fetal abdominal cysts detected in the first trimester to better understand their possible clinical significance and improve their clinical management.

We present a case report of a fetal abdominal cyst detected in the first trimester, with subsequent diagnosis of congenital multiple arthrogryposis. We also performed a systematic review of the literature to determine the incidence and outcome of similar cases, which was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement and registered with PROSPERO (CRD42023491729). PubMed, Web of Science and EMBASE were searched from inception to December 2023 to identify case reports and case series documenting an ultrasound diagnosis of a single fetal abdominal cyst in the first trimester.

Our case presented at 12 + 6 weeks' gestation with an isolated fetal abdominal cyst, which underwent spontaneous resolution in the second trimester, when multiple congenital arthrogryposis was observed. Data on a total of 60 cases of fetal abdominal cyst detected in the first trimester were extracted from the literature. Of these, 35% were associated with concurrent or late-onset structural anomalies, as in our case, and 65% were isolated. In pregnancies with an isolated fetal abdominal cyst, 54% had a live birth with a normal outcome.

A fetal abdominal cyst in the first trimester is usually an isolated finding with a moderate-to-good prognosis, but it could also be an early sign of other associated abnormalities, including arthrogryposis. Increased ultrasound surveillance and additional genetic testing to rule out possible associated anomalies are necessary to assess the risk of adverse pregnancy outcome and provide appropriate parental counseling. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Australian rates of adverse obstetric outcomes have improved little despite guidelines recommending history-based screening and intervention. The first trimester provides a unique opportunity to predict and prevent complications, yet population-based screening has failed to be translated into broad clinical practice.

This study aimed to redesign antenatal care within an Australian public healthcare centre to align with evidence-based maternity care, including population-based first-trimester screening with early initiation of preventative strategies in high-risk pregnancies.

A five-phase action-process model, sharing key elements with implementation science theory, was used to explore barriers to change in antenatal care, co-design a novel service with consumers and establish a population-based antenatal pathway commencing with a multidisciplinary first-trimester screening, assessment and planning visit.

The case for change and associated barriers were defined from the perspective of antenatal care stakeholders. Key needs of each group were established, and solutions were created using co-design methodology, allowing the team to create a novel approach to antenatal care which directly addressed identified barriers. Implementation of the service was associated with a fall in the median gestation at first specialist maternity care provider visit from 20 to 13 weeks.

This study confirms the feasibility of establishing a comprehensive first-trimester screening program within a public Australian healthcare setting and highlights a co-design process which places individualised assessment at the forefront of antenatal care. This framework may be applicable to most public maternity settings in Australia, with expansion aimed at providing equity of care, including in rural and remote settings.

Objective. Our objective was to assess the proportion of false-positive CHD cases at the first-trimester evaluation of the fetal heart, performed by experienced operators. Methods. This multicenter retrospective study included of pregnant women with suspicion of CHDs during first-trimester screening for aneuploidies. In all cases, the fetal heart assessments were performed by obstetricians with extensive experience in first-trimester scanning, following an extended protocol proposed by SIEOG national guidelines, which included an axial view of the fetal abdomen and chest to assess visceral situs and evaluation of the four-chamber view (4CV) and three-vessel trachea view (3VTV) with color Doppler. In all suspected cases, fetal echocardiography was offered within 16 and/or at 19-22 weeks' gestation. Results. From a population of 4300 fetuses, 46 CHDs were suspected. Twenty-four cases were excluded from this analysis because the parents opted for early termination of the pregnancies due to associated structural and/or genetic anomalies. For the remaining 22, echocardiography was performed by 16 weeks in 14 cases (64%) and after 16 weeks in 8 cases. In 19 cases (86.4%), a fetal cardiologist confirmed the presence of a CHD. In three cases (13%), the cardiac anatomy was found to be normal at the fetal echocardiography and postnatally. Conclusions. This study shows that the proportion of false-positive cases at the first-trimester ultrasound examination of the fetal heart, performed by experienced operators, may carry a higher risk of false-positive diagnosis than expected. Therefore, this issue must be discussed in instances where a CHD is suspected at the first-trimester screening.

To review the available prenatal aneuploidy screening options and to provide updated clinical guidelines for reproductive care providers.

All pregnant persons receiving counselling and providing informed consent for prenatal screening.

Implementation of the recommendations in this guideline should increase clinician competency to offer counselling for prenatal screening options and provide appropriate interventions. Given the variety of available options for prenatal screening with different performance, cost, and availability across Canada, appropriate counselling is of paramount importance to offer the best individual choice to Canadian pregnant persons. Prenatal screening may cause anxiety, and the decisions about prenatal diagnostic procedures are complex given the potential risk of fetal loss.

Published literature was retrieved through searches of Medline, PubMed, and the Cochrane Library in and prior to July 2023, using an appropriate controlled vocabulary (prenatal diagnosis, amniocentesis, chorionic villi sampling, non-invasive prenatal screening) and key words (prenatal screening, prenatal genetic counselling). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies written in English and published from January 1995 to July 2023.

The authors rated the quality of evidence and strength of recommendations using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. See online Appendix A (Tables A1 for definitions and A2 for interpretations).

Health care providers involved in prenatal screening, including general practitioners, obstetricians, midwives, maternal-fetal medicine specialists, geneticists, and radiologists.

Non-invasive prenatal screening is the most accurate method for detecting major aneuploidies. It is not universally available in the public health system and has some limitations.

RECOMMENDATIONS.

To assess the coronary sinus (CS) presence, size, and CS to atrial ratio (CS/A) in the first trimester (FT) compared with the second trimester (ST).

In this IRB-approved retrospective study, fetuses with adequate FT cardiac sweeps and normal ST hearts were included. Maternal and fetal characteristics were obtained. CS and atrial diameters were measured by a single sonologist. The CS/A ratio was compared between FT and ST. Linear regression assessed the relationship between biparietal diameter (BPD) and CS and atrial diameters. Statistical significance was set at P < .05.

Among 99 fetuses, the CS was seen in 42/53 (79.2%) in the FT and 14/32 (43.8%) in the ST. No significant associations were found between CS visualization and the factors analyzed. The CS/A ratio was significantly higher in the FT versus ST (0.43 vs 0.25; P < .0001). Combined FT and ST data revealed positive correlations between BPD and both CS (slope = 0.018, P < .0001) and atrial diameters (slope = 0.135, P < .0001), suggesting differential growth rates, with the atrium exhibiting a faster growth rate as BPD increased.

The CS appears prominent in the FT compared with the ST, likely due to differential growth rates between the CS and atrium. Remnants of embryonic structures, differences in myocardial drainage, and hemodynamics may also be contributing factors. Larger prospective studies are needed to confirm these findings and assess the value of the FT CS/A ratio.

To determine the association of first-trimester uterine artery Doppler with hypertensive disorders of pregnancy in twin pregnancies.

This was a retrospective cohort study of twin pregnancies followed at the University Hospital Center of Central Lisbon, Portugal, between January 2010 and December 2022. First-trimester uterine artery pulsatility index (UtA-PI) was determined and compared between twin pregnancies (n = 454) and singleton pregnancies (n = 908), matched to maternal and pregnancy characteristics. Maternal characteristics and mean UtA-PI were analyzed for gestational age, birth weight, gestational hypertension, early- and late-onset pre-eclampsia, HELLP (hemolysis, elevated liver enzymes, low platelets) syndrome, and preterm birth. Univariable and multivariable logistic regression models were used.

The mean first-trimester UtA-PI was significantly lower in dichorionic twins than in singletons (P < 0.001). To study hypertensive disorders of pregnancy in twins, 390 pregnancies were included: 311 (79.7%) dichorionic and 79 (20.3%) monochorionic twins. The observed rates of early- and late-onset pre-eclampsia, gestational hypertension, and HELLP syndrome were 1.0%, 4.4%, 7.4%, and 1.5%, respectively. We achieved a 100% detection rate for early-onset pre-eclampsia using the UtA-PI 90th centile for twins. However, when singleton references were considered, the detection rate decreased to 50%. UtA-PI at or above the 95th centile was associated with increased odds for preterm birth before 32 weeks (adjusted odds ratio 4.1, 95% confidence interval 1.0-16.7, P = 0.043).

Unless other major risk factors for hypertensive disorders are present, women with low UtA-PI will probably not benefit from aspirin prophylaxis. Close monitoring of all twin pregnancies for hypertensive disorders is still recommended.

During a fetal ultrasound scan, a sonographer will zoom in and zoom out as they attempt to get clearer images of the anatomical structures of interest. This paper explores how to use this zoom information which is an under-utilised piece of information that is extractable from fetal ultrasound images. We explore associating zooming patterns to specific structures. The presence of such patterns would indicate that each individual anatomical structure has a unique signature associated with it, thereby allowing for classification of fetal ultrasound clips without directly reading the actual fetal ultrasound images in a convolutional neural network.