Genomic-based non-invasive prenatal screening for fetal aneuploidy (also called NIPS) currently cannot be offered to pregnant women earlier than the 10th week of gestation because before that time, there is not enough fetal DNA in the mother’s blood to provide a reliable screening result. We have validated a method that allows to enrich the fetal component of maternal samples during the NIPS assay which could potentially allow for NIPS to be offered from 8 weeks of gestational age. We propose to test this “early-NIPS” method in 500 women with 8 or 9 weeks of gestational age to provide us with a proof of principle that this approach can work. Early-NIPS would make sure that couples expecting a baby get their NIPS result much earlier, which, in turn would simplify pregnancy follow-up and allow the use of softer methods if a couple with an affected fetus decide to put an end to their pregnancy. Maternal health outcomes would be improved and complications due to more invasive procedures at 14 weeks of pregnancy or more would be avoided. Thus, this project will yield to more personalized and safer pregnancy, at a lower cost than the current prenatal screening offer in Québec, and abroad.
User: Lisa Tremblay (Illumina Canada)