cfDNA from maternal plasma for noninvasive screening of fetal exomes.

Abstract

In recent years, a shift in prenatal screening methods has been observed, moving away from traditional approaches such as ultrasound and maternal serologic markers towards the utilization of noninvasive prenatal testing (NIPT) based on cfDNA extracted from peripheral blood. This cutting-edge technology has established itself as the primary screening method, attributed to its superior detection rate and reduced false-positive rate. Although NIPT predominantly focuses on screening for chromosomal abnormalities, it currently does not encompass the identification of single-gene disorders. Considering that single-gene disorders contribute significantly to birth defects, accounting for 7.5% to 12% of cases, it becomes imperative to integrate screening for single-gene disorders into the birth defect prevention and control system. This study aims to provide a succinct overview of the recent advancements in NIPT specifically tailored for monogenic disorders.