Prenatal Diagnosis最新文献

Objective: This study aimed to identify prenatal ultrasonographic predictors of enteral feeding tolerance in neonates with omphaloceles.

Method: This retrospective cohort study included all live-born neonates prenatally diagnosed with omphalocele at Emma Children's Hospital/Amsterdam UMC approximately 2004-2024. Prenatal ultrasonographic data included fetal ascites, omphalocele circumference/abdominal circumference (OC/AC) ratio, extracorporeal liver, polyhydramnios and associated structural anomalies. Associations with enteral feeding tolerance, measured by duration of parenteral nutrition (PN) and time to achieve full enteral feeds (FEF), and the need for tube feeding post-admission were analyzed using linear and logistic regression.

Results: Forty-two neonates were included (42.9% male). Median time to FEF was 10.0 days (IQR = 5.8-14.5) and median PN duration 5.0 days (IQR = 0.0-10.5). At discharge, 28.6% required full or partial nasogastric tube feeding. Polyhydramnios was excluded due to low prevalence (n = 1). Fetal ascites predicted longer PN duration (ratio 4.05, 95% CI [1.57, 10.60]) and tube feeding post-admission (OR 9.27, 95% CI [1.47, 58.40]). A higher OC/AC ratio predicted a longer time to FEF (ratio 4.39, 95% CI [1.54, 12.69]). No associations were found for extracorporeal liver or associated structural anomalies.

Conclusion: Fetal ascites and a higher OC/AC ratio were predictive of delayed enteral feeding tolerance. While full enteral feeds were achieved within 2 weeks, 29% required tube feeding after discharge.

Objective: This study compared insertion difficulties, shunt failure, reintervention rates, maternal adverse events, and neonatal outcomes among different shunt types used in fetal hydrothorax.

Method: A retrospective multicenter cohort study (2012-2022) was conducted across 12 international centers. The primary outcome was the occurrence of complications, classified as insertion difficulties and shunt failure (dislocation, occlusion, or unexplained shunt failure). Secondary outcomes included reintervention rates, maternal complications, and neonatal survival.

Results: Among 349 cases, 345 were included in the analysis of the outcome measures. Rodeck shunts had significantly fewer complications (19.5%) compared to Somatex (38.3%, OR 2.53, p = 0.016) and Harrison shunts (50.0%, OR 3.82, p < 0.001). Somatex shunts had the highest rate of incorrect positioning (16%), while dislocation was most frequent with Harrison shunts (31.1%). Reintervention rates were lowest for Rodeck (12.1%) and highest for Harrison (32.2%). Maternal body mass index, fetal hydrops, laterality and year of shunt placement did not significantly influence complication rates. No significant differences in live birth rates or gestational age at delivery were observed.

Conclusions: The Rodeck shunt was associated with fewer insertion difficulties, better shunt performance and lower reintervention rates. There was no difference in perinatal survival among the three shunt types.

Objective: To evaluate the implementation of a publicly funded statewide perinatal exome sequencing (ES) program in Victoria, Australia, focusing on eligibility, diagnostic yield, clinical utility, and equity.

Methods: We conducted a retrospective cohort study of ES referrals for fetal anomalies from 2018 to 2022. Eligibility was assessed by multidisciplinary teams at four tertiary fetal medicine units. We examined approval rates, referral indications, diagnostic yield, turnaround time, timing (prenatal or postmortem), and pregnancy outcomes. Subgroup analysis was conducted for prenatal and postmortem cases. Differences in proportions were assessed using z-tests (p < 0.05 significant).

Results: Of 195 referrals, 179 (93%) were approved for publicly funded ES. Diagnostic yield was 38%, similar in prenatal (37.5%) and postmortem (38%) cases. In prenatal cases, termination was significantly more frequent when a causative variant was identified (67% vs. 17%, p < 0.0001). Most ES recipients lived in metropolitan areas (77% vs. 68%, p = 0.01), with no significant disparities in socioeconomic status or migrant background.

Conclusion: This study demonstrates the feasibility and clinical utility of a state-funded MDT-led perinatal ES program in Australia. It highlights equitable access across population groups, supports the value of structured implementation, and underscores the need for ongoing evaluation to ensure equitable genomic care delivery.

Post-mortem magnetic resonance imaging (pmMRI) has become an important non-invasive or minimally invasive method for evaluating fetal structural anomalies, providing an alternative to traditional autopsy. This study aimed to assess how pmMRI compares to conventional autopsy in diagnostic accuracy and clinical utility for identifying fetal anomalies. A systematic literature search was conducted across electronic databases, selecting studies that directly compared pmMRI findings to conventional autopsy in fetuses with congenital anomalies or unexplained fetal demise. Using a random-effects model, pooled sensitivity, specificity, and diagnostic odds ratios were calculated, along with summary receiver operating characteristic curves. From 21 eligible studies, data from 15 studies involving 1049 fetuses were pooled. The overall pooled sensitivity of pmMRI was 93%, and specificity was 88%, with a positive likelihood ratio of 6.07 and a negative likelihood ratio of 0.10. The diagnostic odds ratio was 80.03, indicating strong diagnostic performance. System-specific accuracies were also evaluated for the central nervous, thoracic, musculoskeletal, and genitourinary systems. While conventional autopsy remains essential for diagnosing infections and placental pathologies, pmMRI offers a reliable, minimally invasive option, particularly valuable when full autopsy is not feasible or declined.

Objective: Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on parental decision-making are not well characterized. This study evaluated the diagnostic utility of extended genetic testing, including exome sequencing (ES), in fetuses with prenatally diagnosed SD and its influence on clinical management.

Methods: We retrospectively analyzed 150 pregnancies with a prenatal diagnosis of SD referred to our center between July 2021 and May 2025. All cases underwent detailed phenotyping, genetic counseling, and were offered extended genetic testing, including karyotyping, chromosomal microarray (CMA), and trio-based ES.

Results: Genetic testing, including karyotyping (110/110), CMA (61, 55.5%), and ES (66, 60.0%), was performed in 110 fetuses. Genetic anomalies were detected in 19 fetuses (17.3%). ES revealed or confirmed 16 pathogenic, likely pathogenic, or uncertain variants in 14/66 (21.21%) fetuses, including one with three distinct variants. Notably, twelve of these fetuses would not have been identified without ES. Although no definitive causative molecular variants were detected, ES results influenced the parental decision to terminate the pregnancy in four cases.

Conclusion: ES increases diagnostic yield in SD and may influence prenatal decision-making.

Objective: We aimed to characterize the fetal features across gestation and describe genotype-phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.

Method: Retrospective cohort study of pregnancies with a fetal RASopathy and one or more abnormal fluid collections. Ultrasound and clinic databases were searched at six institutions to identify pathogenic or likely pathogenic variants indicating a fetal RASopathy. Phenotypic features were organized by gestational age to evaluate their evolution, and chi-square and Fisher exact proportions were compared.

Results: Forty-six pregnancies were included. Pleural effusions, skin edema, ascites, and cardiac abnormalities presented across gestation. Cystic hygroma and jugular sacs presented in the first trimester and persisted into the second trimester. Hepatomegaly, polyhydramnios, small or absent stomach, and contractures were more frequent in the second and third trimesters. Contractures were more likely with HRAS variants (63% vs. 24%, p = 0.044) and increased nuchal translucency or cystic hygroma were more common with SOS1 variants (100% vs. 44%, p = 0.049).

Conclusion: These data provide insight into genotype-phenotype correlations and the course of fetal RASopathies that present with at least one abnormal fluid collection. Timing of these phenotypes is important to consider for future research on targeted in utero approaches to management.