This article has been updated with a comment from one of the researchers regarding which tests will be included in the study.
NEW YORK (GenomeWeb News) – Researchers at Canada's CHU de Quebec and the University of Laval will use C$10.5 million (US$10.2 million) in government funding to work with Ariosa Diagnostics to run a comparative study of non-invasive prenatal testing techniques for screening for chromosomal conditions such as Down syndrome.
The project, funded by the Canadian Institutes of Health Research, Genome Quebec, and other partners will try out currently available prenatal screening methods, including Ariosa's Harmony Prenatal Test, which is already commercially available, Genome Quebec said today.
The PEGASUS (Personalized Genomics for Prenatal Aneuploidy Screening Using Maternal Blood) project will seek to independently compare the performance of different tests and methods, including methods that combine with currently available screening tools.
Genome Quebec said it plans to study "different genomic screening approaches that involve genomic-based NIPTs," including two NIPT assays that will be implemented in Canadian public clinical labs, but the Ariosa Harmony is the only commercial genomic test involved in the study. University of Laval Professor Francois Rousseau told GenomeWeb Daily News in an e-mail. Ariosa, along with Sequenom and Illumina's Verinata Health, are among the first providers of genomic sequencing-based tests for fetal aneuploidies.
The partners also plan to evaluate the cost-effectiveness of these screening tools and methods, as well as related ethical and social aspects of using NIPTs, and they intend to identify and adapt the best implementation tools for other users in the healthcare system.
The investigators plan to recruit 5,600 pregnant women, 3,600 who are at high risk for trisomy conditions and 2,000 who are at low risk. Samples from these women will be tested in parallel, and without knowledge of the outcomes of the pregnancies, using different screening methods, including genomic NIPTs and other biochemical and ultrasound screening tools.
Around 450,000 women in Canada become pregnant every year and are offered prenatal screening for Down syndrome based on bioechemical and ultrasound markers. Although the "vast majority" of these are in the low-risk category, those women who are judged to be at high risk are offered amniocentesis, an invasive procedure that carries some risk of miscarriage.
Rousseau said in a statement that the Ariosa test was chosen because it is "the most affordable" NIPT currently available and because it is the most likely to be used in Canada.