as invasive tests carry a risk of miscarriage of around 0.5%, researchers have long been focused on developing an alternative, highly accurate non-invasive approach. the possibility of diagnosing aneuploidies with a maternal blood test emerged with the discovery of cell free fetal dna (cffdna) in 1997, and in 2008 the first proof-of-principle studies were published showing that non-invasive prenatal testing (nipt) for aneuploidy was possible using next generation sequencing (ngs). ngs technology has advanced rapidly and nipt for down’s syndrome now has detection rates above 99% and false positive rates of 0.1-1%.
uprenatal is a non-invasive prenatal test (nipt) performed on maternal blood to screen pregnancies for the most common fetal chromosome anomalies: trisomy 21 (down syndrome), trisomy 18 (edwards syndrome) and trisomy 13 (patau syndrome).
