Prenatal diagnosis
Audio Summaries

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Sep 23, 2026

The authors aimed to enhance clinical care in prenatal genomic sequencing by systematically curating genes associated with severe fetal conditions such as hydrops and stillbirth. Through the efforts of the ClinGen Prenatal Gene Curation Expert Panel, they reviewed and published evidence summaries for 63 disease relationships involving 61 genes linked to clinically significant fetal phenotypes. This work addresses a critical gap in genomic medicine, improving diagnosis and counseling for severe prenatal conditions.

Fetal Intracranial Hemorrhage: What to Tell Expecting Parents?

Sep 19, 2026

The authors aim to provide a comprehensive overview of fetal intracranial hemorrhage (ICH) to guide clinicians in counseling expecting parents about this rare and complex condition. They review the classification, epidemiology, and diverse etiologies of fetal ICH, emphasizing the challenges in accurately predicting outcomes due to the variability in severity and the limitations of existing prognostic data. The study highlights the importance of a thorough evaluation and clear communication of uncertainties to families facing this diagnosis.

Cell-Free DNA Screening After Euploid Embryo Transfer: Concordance With Amniocentesis and Residual Aneuploidy Risk

Sep 16, 2026

The authors aimed to evaluate the concordance between cell-free DNA screening and amniocentesis in detecting chromosomal abnormalities after single euploid embryo transfer following pre-implantation genetic testing for aneuploidy (PGT-A). Their findings indicated that while cell-free DNA screening demonstrated a high negative predictive value, its positive predictive value was limited, suggesting that invasive testing remains necessary in certain high-risk scenarios. The study also estimated a very low residual aneuploidy risk of 0.1% after euploid embryo transfer.

Role of Fetoscopic Airway Evaluation Immediately Preceding EXIT Procedure in Fetuses With Suspected Airway Obstruction

Sep 11, 2026

This study investigates the effectiveness of fetoscopic airway evaluation before the EXIT (Ex Utero Intrapartum Treatment) procedure in fetuses suspected of having airway obstruction. The findings suggest that this evaluation can confirm airway patency, optimize airway management strategies, and potentially reduce the need for invasive procedures like tracheostomy, thereby enhancing the safety and efficiency of treatment.

Cytogenetic and Molecular Findings in Hydrops-Related Mirror Syndrome

Sep 10, 2026

The authors aimed to compare genetic diagnoses in pregnancies affected by non-immune hydrops with and without mirror syndrome, a condition characterized by maternal fluid overload mirroring fetal hydrops. Their retrospective study found similar rates of genetic testing and diagnostic yields between the two groups, suggesting that a comparable approach to genetic counseling and evaluation can be applied for both conditions. The results indicate that the underlying genetic causes may not differ significantly, despite the clinical complexities associated with mirror syndrome.

Beyond the Negative: Insights From Postnatal Medical Genetics Follow-Up After Nondiagnostic Prenatal Exome Sequencing

Sep 4, 2026

The authors aimed to evaluate the effectiveness of postnatal medical genetic reassessment and reinterpretation of prenatal exome sequencing (pES) in liveborn children with structural anomalies and nondiagnostic prenatal genetic testing. They found that 41% of the children underwent reassessment, leading to genetic diagnoses in 27% of those who had pES reinterpretation, suggesting that a structured approach to postnatal follow-up can yield valuable insights in these complex cases.

Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental Outcome: Key Factors to Identify Differences in Neurodevelopmental Outcome?

Sep 4, 2026

The authors aim to investigate the neuropathological changes in fetuses with Trisomy 21 (T21) and their impact on neurodevelopmental outcomes, comparing brain patterns in T21 fetuses to healthy controls. The study found that T21 fetuses exhibited significantly more brain abnormalities, with specific conditions like cerebellar hypoplasia and widened subarachnoid fluid spaces being linked to poorer neurodevelopmental outcomes. The findings highlight the need for careful prenatal counseling regarding the implications of these brain abnormalities in T21.

Rare Autosomal Trisomies Detected by Noninvasive Prenatal Testing: Performance, Outcomes, and Exploratory Analysis of the Theoretical Mosaicism Ratio

Aug 22, 2026

The authors aimed to characterize rare autosomal trisomies (RATs) detected through genome-wide noninvasive prenatal testing (GW-NIPT) and assess their clinical significance, particularly regarding adverse pregnancy outcomes. They found that while RATs-positive results indicated a meaningful risk, the positive predictive value for fetal confirmation was low, and the theoretical mosaicism ratio (TMR) showed poor discrimination for adverse outcomes, suggesting it should be used in conjunction with other clinical findings rather than as a standalone metric.

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases

Aug 22, 2026

The authors aimed to characterize the prenatal genetic and sonographic features of KBG syndrome in a cohort of 19 fetal cases to enhance prenatal diagnosis and genetic counseling. They found that common sonographic features included fetal growth restriction and increased nuchal translucency, while chromosomal microarray analysis and whole-exome sequencing revealed significant genetic variations, particularly in the ANKRD11 gene. The study highlights the importance of integrating sonographic findings with genetic testing for effective management of at-risk pregnancies.

Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium

Aug 17, 2026

The authors aimed to evaluate the real-world longitudinal performance of various prenatal cell-free DNA screening technologies in Belgium, specifically assessing their positive predictive values (PPVs) for detecting fetal trisomies 21, 18, and 13. Over three years, they recorded outcomes from 1158 confirmatory diagnostic tests, finding that laboratory-developed tests (LDTs) generally outperformed commercial tests in terms of PPVs. The study highlights the importance of understanding these performance differences, as they significantly affect both pregnant individuals and the national healthcare system.