cfDNA Reflex Testing for Autosomal Recessive Fetal Conditions

Podcast: Dr. Chapa's OBGYN No Spin Podcast · Hector Chapa

Opublikowano: 2026-09-26

An important clinical advantage of cfDNA screening for autosomal recessive conditions is its ability to provide meaningful fetal risk assessment in general-risk pregnancies at an early gestational age, even when partner carrier testing is unavailable. But is this reflex cell-free DNA approach reliable. In this episode, we will review NEW DATA (Oct 2026) from a prospective, multi-site study whose goal was to “evaluate the clinical performance of cell- free DNA (cfDNA) screening as a primary screening tool for autosomal recessive conditions in a large, prospective, general-risk population”. We will review the sensitivity, specificity, PPV and NPV of this (UNITY) approach. <p...