Phase 1 Project
Genetic abnormalities are a leading cause of death among Canadian newborns and infants. Currently, prenatal diagnosis for genetic abnormalities consists of maternal blood tests and ultrasound followed by diagnostic tests on fetal cells (through amniocentesis or vaginal surgery) for those pregnancies considered high risk. The latter procedures carry a risk of miscarriage, require experienced medical personnel, are very expensive and do not provide results until late in the pregnancy. There is clearly a need for less invasive, less expensive prenatal diagnostic techniques that are able to provide relevant information at earlier stages of pregnancy.
Mount Sinai Hospital (MSH) in Toronto runs the largest prenatal diagnosis centre in Canada and one of the largest in North America. Scientists and physicians at MSH have developed a method to collect and isolate fetal cells non-invasively, using a technique similar to a routine PAP smear. Now engineers and chemists in Dr. Aaron Wheeler’s research group at the University of Toronto are teaming with experts in genetic analysis and prenatal diagnosis to develop techniques to rapidly and reproducibly isolate and analyze these cells for prenatal diagnosis of genetic abnormalities.
If successful, these techniques could completely transform the way prenatal diagnosis is delivered, replacing risk-associated, expensive, invasive diagnostics available only after 12-15 weeks of pregnancy with safe, inexpensive, non-invasive diagnostics available as early as five weeks of pregnancy. This will result in higher coverage of the population, reduced patient anxiety, increased medical options for at-risk pregnancies and significant reductions in healthcare costs. Canadians will also benefit from the formation of a promising startup company, attracting investment and bringing job opportunities into Canada’s burgeoning high-tech/biotech sector.