cfDNA Reflex Testing for Autosomal Recessive Fetal Conditions

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.

1. A Prospective, Multi-Site Study of Performance of Cell-Free DNA Testing for Recessive Conditions in a Large, General-Risk Pregnancy Population. Obstet Gynecol (OCT) 2026;148:509–15

2. SMFM STATEMENT Society for Maternal-Fetal Medicine Statement: Evaluation and management of cell-free DNA screening for fetal red cell antigen genotype in alloimmunized and non-alloimmunized pregnancies. Pregnancy; June 2026