Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta-analysis.
Acta Obstet Gynecol ScandJul 2, 2026 (epub)
Jia Yao, Yan Wang, Gang Li et al.
✦ AI-curated · Sources linked
In 30 seconds
This retrospective cohort study evaluated the diagnostic yield of prenatal exome sequencing (ES) compared to chromosomal microarray analysis (CMA) in 219 fetuses with central nervous system (CNS) anomalies detected via imaging. ES identified pathogenic variants in 16% of cases, with the highest yield in multisystem malformations (25%). A systematic review and meta-analysis of 989 cases showed a pooled ES diagnostic yield of 27%.
Key findings
- ES identified pathogenic variants in 16% of 219 cases studied.
- The highest diagnostic yield of ES was 25% in cases with multisystem malformations.
- The pooled diagnostic yield of ES from the meta-analysis was 27% (95% CI, 21%-34%).
- Diagnostic yield for three or more CNS abnormalities was 43% (95% CI, 31%-58%).
Why it matters
Understanding the diagnostic yield of prenatal exome sequencing can guide clinicians in making informed decisions regarding genetic testing for fetuses with CNS anomalies, potentially leading to better management and counseling for affected families.