High-Resolution and Noninvasive Fetal Exome Screening

This study evaluates a noninvasive method for comprehensive fetal exome screening using circulating cell-free DNA (cfDNA) from maternal plasma. The approach demonstrated high sensitivity (96.3% for de novo SNVs, 81.9% for indels) in detecting fetal genetic variants across gestational ages, including pathogenic mutations (e.g., COL2A1 splice variant in Stickler’s syndrome). The method also enabled accurate carrier screening and incidental findings, offering a scalable alternative to invasive prenatal testing.

This study evaluates a noninvasive method for comprehensive fetal exome screening using circulating cell-free DNA (cfDNA) from maternal plasma. The approach demonstrated high sensitivity (96.3% for de novo SNVs, 81.9% for indels) in detecting fetal genetic variants across gestational ages, including pathogenic mutations (e.g., COL2A1 splice variant in Stickler’s syndrome). The method also enabled accurate carrier screening and incidental findings, offering a scalable alternative to invasive prenatal testing.