Prenatal diagnosis
Audio Summaries

Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity

Aug 6, 2026

The authors aimed to evaluate the performance of medium-coverage whole-genome sequencing (CNV-plus) in detecting absence of heterozygosity (AOH) in prenatal samples, comparing it to the standard chromosomal microarray analysis (CMA). Their findings indicate that CNV-plus shows high sensitivity and specificity, particularly for larger AOH regions, and demonstrates good concordance with CMA, suggesting it could serve as a complementary method in prenatal testing for AOH.

The Diagnosis and Prenatal Management of Non-RHD Alloimmunizations

Aug 5, 2026

The authors aim to address the challenges in the diagnosis and prenatal management of non-RhD red blood cell alloimmunizations, which are increasingly significant causes of hemolytic disease of the fetus and newborn (HDFN). They highlight the limitations of existing diagnostic algorithms and management protocols, primarily based on RhD alloimmunization, and emphasize the need for antibody-specific strategies to improve risk assessment and individualized care in affected pregnancies. The review discusses current approaches and advancements in non-invasive diagnostic techniques to enhance prenatal management for these cases.

A Simplified Workflow for the Prediction of Putative Viral Reads Using NIPT Data

Aug 5, 2026

The authors aim to develop a cost-effective and efficient workflow for predicting viral sequences from non-invasive prenatal testing (NIPT) data, which traditionally focuses on identifying fetal chromosomal abnormalities. By comparing two bioinformatic approaches, they demonstrate that their proposed method can effectively identify viral DNA in 24.2% of samples while reducing computational complexity. The study highlights the potential diversity of the maternal virome and calls for further experimental validation of the identified viral sequences.

Diagnostic Testing After Positive Cell-Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants

Aug 1, 2026

The authors aimed to investigate the socioeconomic and medical factors influencing the decision to undergo confirmatory diagnostic testing after positive cell-free DNA screening for sex chromosome aneuploidies. Their study found that only 26% of patients pursued further testing, with significant disparities based on age, socioeconomic status, race, and language preference, indicating that these factors play a critical role in the accessibility and uptake of prenatal diagnostic services.

Mirror Syndrome (Ballantyne Syndrome): Prenatal Diagnosis, Pathophysiology, and the Role of Fetal Therapy-A Narrative Review

Jul 30, 2026

This narrative review investigates the complexities of mirror syndrome, a rare condition linked to fetal hydrops, and aims to clarify its prenatal diagnosis, underlying placental pathophysiology, and the potential for targeted fetal therapy. The authors highlight the challenges in differentiating mirror syndrome from preeclampsia and emphasize the importance of early recognition and multidisciplinary management to improve outcomes for both mother and fetus. Additionally, they discuss the promising role of angiogenic biomarkers in aiding diagnosis and the benefits of in utero therapy for resolving fetal hydrops.

Quantitative MRI Assessment of Gyrification and Brain Volume in Congenital Cytomegalovirus Fetuses and Postnatal Outcome

Jul 24, 2026

The authors aimed to quantitatively assess the impact of congenital cytomegalovirus (CMV) infection on fetal brain development by analyzing cortical gyrification and brain volumes in CMV-exposed fetuses, while also evaluating postnatal outcomes. Their findings revealed that CMV-infected fetuses exhibited reduced cerebral gyrification regardless of MRI findings, and follow-up indicated that some children experienced neurodevelopmental difficulties, highlighting the potential for improved risk identification through quantitative MRI analysis.

Parental Decision-Making and Pregnancy Outcomes After Increased First-Trimester Nuchal Translucency: A 12-Year Cohort

Jul 15, 2026

The authors aimed to investigate how increased first-trimester nuchal translucency (NT) thickness influences parental decision-making and pregnancy outcomes. Their study found that the rate of termination of pregnancy varied significantly with NT thickness, and that integrating NT measurements with genetic and ultrasound findings could enhance personalized prenatal counseling. Overall, the findings highlight the complexity of decision-making processes following abnormal NT results.

International Expert Consensus on the Diagnosis and Clinical Management of Primary Fetal Pleural Effusion

Jul 14, 2026

The authors aimed to establish standardized clinical guidelines for the diagnosis and management of primary fetal pleural effusion, a rare condition that can significantly affect fetal and neonatal outcomes. Using the Delphi method, they achieved consensus among international experts on key recommendations, including the use of ultrasound for diagnosis, the importance of thorough evaluations to exclude secondary causes, and the preference for thoracoamniotic shunting in hydropic cases. These guidelines are designed to improve clinical practice and perinatal outcomes while providing a basis for future research.

Genetic Etiology of Miscarriage in a Vietnamese Cohort Using CNV-Seq and Exome Sequencing

Jul 13, 2026

This study investigates the genetic causes of pregnancy loss in a Vietnamese cohort, aiming to characterize the associated clinical features. Analyzing 636 cases, the authors found genetic abnormalities in 32.9% of cases, with numerical chromosomal abnormalities being the most prevalent. The findings suggest that the use of copy number variant sequencing and clinical exome sequencing can aid in identifying genetic factors contributing to pregnancy loss, potentially guiding future pregnancy management.

Lung Size Measurement in Left-Sided Congenital Diaphragmatic Hernia: Does Position of the Fetus Affect Results?

Jul 12, 2026

The authors aimed to determine how fetal position affects lung size measurements in fetuses with left-sided congenital diaphragmatic hernia (L-CDH) by comparing the observed/expected lung-to-head ratio (O/E-LHR) in two different positions. Their findings indicate that lung size is consistently underestimated when the lung is positioned away from the ultrasound probe, which may lead to misclassification of severity and lower predicted survival rates. This suggests that fetal position should be considered when assessing lung size to improve prognostic accuracy and treatment decisions.