Prenatal exome sequencing analysis in fetuses with central nervous system anomalies

This study aimed to assess the effectiveness of prenatal exome sequencing (pES) in fetuses with central nervous system (CNS) abnormalities. A total of 167 pregnancies were included, and fetuses with aneuploidy or pathogenic copy number variants (CNVs) were excluded. The study found that 25.1% of the pregnancies had pathogenic or likely pathogenic variants. The diagnostic rate was higher in fetuses with non-isolated CNS abnormalities compared to those with single CNS abnormalities. De novo mutations were the primary cause of positive cases, and patients with pathogenic or likely pathogenic mutations were more likely to choose advanced pregnancy termination. The study concludes that pES improves the identification of genetic disorders in fetuses with CNS anomalies and has an impact on parents' decision-making.