Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing.

This article focuses on evaluating the clinical utility of a non-invasive prenatal testing method for dominant single-gene disorders (dSGDs), particularly neurodevelopmental disorders (NDDs), using plasma cell-free DNA (cfDNA) and targeted next-generation sequencing (NIPT-dSGD). In a prospective pilot study of 535 pregnancies, the NIPT-dSGD panel targeted 34 genes associated with 66 dominant disorders and demonstrated 100% sensitivity and specificity in detecting pathogenic or likely pathogenic variants, including both de novo and paternally inherited mutations. Notably, several positive cases had normal prenatal ultrasound findings, highlighting the method’s potential to identify disorders not detectable by conventional ultrasound screening. The study suggests that NIPT-dSGD could enhance prenatal risk assessment and pregnancy management, especially for conditions without prenatal ultrasound abnormalities.