Prenatal Exome Sequencing Identifies Genetic Variants in Normal Fetuses

The systematic review and meta-analysis assessed the incremental yield of prenatal exome sequencing (PES) in 1,916 fetuses with a normal phenotype and normal karyotype/CMA. PES identified pathogenic or likely pathogenic variants in 1.6% of cases, primarily de novo autosomal dominant mutations. The likelihood of detecting a severe disease-related variant was 0.5%. Findings highlight the potential utility of PES, though further research is needed for clinical application.