Genetic Test Evaluation

understanding how genetic tests impact patient management

Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Rare Autosomal Trisomies

November 28, 2017

This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for rare autosomal trisomies in women with singleton or multiple gestation pregnancies. There has been a large uptake of cfDNA fetal screening for common trisomies in women at high risk for fetal aneuploidy, with the majority of fetal cfDNA studies published in high-risk populations. In addition, some professional societies and medical practices support cfDNA screening for common trisomies for all pregnant women, regardless of risk. As many laboratories are offering analysis for rare autosomal trisomies along with common aneuploidy cfDNA screening, it is important to evaluate published evidence for fetal cfDNA screening for these conditions.