Genetic Test Evaluation

understanding how genetic tests impact patient management

Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Trisomy 21, 18, and 13 in Low-Risk Women

October 5, 2017

This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for fetal trisomy 21, 18, and 13 in low-risk women with singleton or multiple gestation pregnancies. There has been a large uptake of cfDNA fetal screening in women at high risk for fetal aneuploidy, with the majority of fetal cfDNA screening studies published in high-risk populations. Some professional societies and medical practices support its use for all pregnant women, regardless of prior risk. Therefore, it is important to evaluate published evidence for fetal cfDNA screening in low-risk women.