Non-invasive prenatal screening: invasive implications and technological overreach

Cell-free foetal DNA (cffDNA) screening, herein referred to as non-invasive prenatal screening (NIPS), has seen widespread uptake as a preferred prenatal screening tool over the past decade. NIPS examines maternal serum for foetal genetic material and is ultimately able to assign risk of aneuploidy to a given pregnancy with remarkable accuracy. Given the success of applying NIPS to aneuploidy screening, researchers and private laboratories have sought to expand its scope to include screening for rare genetic abnormalities. Despite the comparative immaturity of the technology in this latter application, NIPS is now often marketed directly to expectant parents as a way to screen for numerous non-aneuploid genetic conditions. Notably, this latter application is in direct contradiction of American College of Obstetricians and Gynecologists (ACOG) recommendations, and has resulted in clearly documented adverse pregnancy outcomes.