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 High-Risk Women

February 16, 2018

This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for fetal trisomy 21, 18, and 13 in high-risk women with singleton or multiple gestation pregnancies. Populations at high risk for aneuploidy include women with advanced maternal age; parental Robertsonian translocation involving chromosome 21 or 13; a previous pregnancy with a trisomy; ultrasound findings associated with an increased risk for trisomy 21, 18, or 13; and/or a positive alternate aneuploidy screening test.