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PEGASUS: Personalized Genomics for Prenatal Aneuploidy Screening Using Maternal Blood

2012 Large-Scale Applied Research Project Competition – Genomics and Personalized Health
Genome Centre(s):
Génome Québec, Genome British Columbia
Project Leader(s):
François Rousseau (Université Laval), Sylvie Langlois (University of British Columbia)
Fiscal Year Project Launched: 
Project Description: 

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.