PEGASUS: Personalized Genomics for Prenatal Aneuploidy Screening Using Maternal Blood
Every year in Canada, about 10,000 pregnant women undergo amniocentesis to screen for genetic abnormalities such as Down syndrome. This procedure represents a nonnegligible risk and tragically, 70 healthy fetuses are lost due to complications from the procedure. Recently, however, scientists have discovered that fetal DNA present in the mother’s blood can be used to test for genetic abnormalities, and this through a simple blood test.
Drs. François Rousseau, Sylvie Langlois and team will compare different genomic technologies for their effectiveness to successfully detect genetic abnormalities using the mother’s blood. The goal of the study is to implement the most suitable technology into the Canadian health care system to eventually offer, in the context of standard clinical care, noninvasive prenatal screening to all Canadian women.