Dr. Sylvie Langlois is a clinical geneticist and researcher in the field of prenatal genetics. She is also the Medical Director of the BC Prenatal Genetic screening program. As a researcher, Dr Langlois’ work is focused on using new technologies to improve prenatal screening for Down syndrome and other chromosomal anomalies. The discovery that DNA of fetal origin is present in maternal blood during pregnancy has led to a new genomics-based maternal blood test (called non-invasive prenatal screening or NIPS) that is an extremely reliable screening test for Down syndrome. As co-principal investigator of PEGASUS 2: PErsonalized Genomics for prenatal Abnormalities Screening USing maternal blood: Towards First Tier Screening and Beyond, she aims to contribute the needed high-quality evidence to inform the healthcare organisations’ decisions about replacing the traditional screening tests for fetal chromosomes by first-tier Non Invasive Prenatal Screening based on cfDNA for the common aneuploidies, and also possibly screening for other fetal chromosome anomalies. PEGASUS 2 aims to compare the current screening approach of second-tier NIPS with first-tier NIPS in a large cohort of pregnant women and study the cost-effectiveness of expanding screening to other conditions and the ethical, social and legal implications of doing so. The goal of the project is to enable publicly funded access to this promising genomics technology to all pregnant women in Canada, while taking into account couples’ values in their decision to participate or not to prenatal screening and ensuring that all health care professionals are adequately trained in shared decision making for prenatal screening, and also that women have access to web-based tools to help in their decision.
Academic Institution Affiliation: University of British Columbia (UBC)
Academic Institution Position/Title: Professor
Academic Affiliation Faculty: Faculty of Medicine, Department of Medical Genetics
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