Noninvasive prenatal testing (NIPT) consists of analyzing cell-free DNA (cfDNA) circulating in the maternal blood in order to detect Down syndrome and other common aneuploidies.
From a simple blood test, NIPT has demonstrated its high sensitivity to detect common trisomies and helped reduce the number of unnecessary invasive procedures. (Bianchi DW et al. 2014, Gregg et al. 2016)
By enabling safe and early access to reliable results, NIPT has quickly been integrated in screening programs across the world. However, cell-free DNA testing for aneuploidy screening has so far been limited by the complexity, cost and capacity of current commercial NIPT technologies.