Personalized genomics for prenatal aneuploidy screening using maternal blood (PEGASUS)

Principal Investigator: François Rousseau, Sylvie Langlois
Theme : Health
Competition : Genomics and Personalized Health
Status : Completed
Start : Apr. 1, 2013
End: Mar. 31, 2017
Budget : $10,459,731.00

New, safer prenatal screening solution could soon be available


Each year, nearly 10,000 pregnant Canadian women undergo amniocentesis to screen for genetic anomalies, such as Down syndrome. This intervention is not without risk, since it leads to the loss of 70 healthy fetuses. Researchers have recently discovered that fetal DNA in maternal blood could be used to screen for genetic abnormalities. 


The project involves conducting an independent study to compare the performance and usefulness of new genomic prenatal screening methods using a blood test instead of the riskier amniocentesis. The research team will also identify the best ways to implement this technology in Canada, which would involve decision-making support tools for couples and training tools for health care professionals. As a result of the research, an effective, non-invasive prenatal screening test could become part of standard prenatal care offered to Canadian women.


The project involves an interdisciplinary team of 27 researchers from 12 universities – eight in Canada, four in Europe – and five federal and provincial policy makers in the health care field.


To learn more about this project, click here


Co-applicants and End-users:

Daniel Reinharz Université de Montréal
Vardit Ravitsky Université de Montréal
France Légaré Université Laval
Jan Friedman University of British Columbia
Aly Karsan University of British Columbia
Timothy Caulfield University of Alberta
Ubaka Ogbogu University of Alberta
Jo-Ann Johnson University of Calgary
Julian Little University of Ottawa
Mark Walker University of Ottawa
Brenda Wilson University of Ottawa
Guy Rouleau Université de Montréal
Anne-Marie Laberge Université de Montréal
François Audibert Université de Montréal
Yves Giguère Université Laval
Jean-Claude Forest Université Laval
Jean Gekas  CHU de Québec
 Anik Giguère CHU de Québec 
Daryl Pullman  Memorial University 
Gert Matthijs  University of Leuven, Belgium
Mario  Pazzagli  University of Florence, Italy 
Pamela Pinzani  University of Florence, Italy 
Michel Vekemans  Hôpital Necker-Enfants madaldes, Paris, France 
Lyn S.  Chitty  Institute of Child Health, London, UK 
Nicholas  Lench  Great Ormond Street Hospital, London, UK
Laird Roe Health Canada
Ross Duncan Public Health Agency of Canada
Wei Luo Public Health Agency of Canada
Juan-Andrès Leon Public Health Agency of Canada
Amanda Skoll University of British Columbia