Currently prenatal diagnosis, by amniocentesis or chorionic villi sampling, is costly, is being done only by specialists in a small number of centers and carries a risk of miscarriage. Amniocentesis is done later in pregnancy, with results often not known until 17 weeks gestation. To reduce the cost, these prenatal diagnostic tests are usually offered only after an earlier prenatal screening test result or fetal ultrasound shows an increased risk for chromosomal abnormality. A safe, non- invasive and less expensive procedure, which can be done by a variety of health care professionals, would allow testing of all pregnant women for fetal chromosome abnormalities, rather than only those at an increased risk, as well as testing for single gene disorders of pregnancies at risk. This will relieve parental anxiety while reducing healthcare costs, substantially.
Experts at Mount Sinai Hospital have developed a method to collect fetal cells non-invasively, using a technique similar to a PAP smear. In the first phase of this project, Dr. David Chitayat and Dr. Elena Kolomietz from Mount Sinai worked with Dr. Aaron Wheeler and his team at the University of Toronto to develop a way to isolate and analyze these cells using microfluidics and genomic analysis. The team built a proof-of-principle digital microfluidic platform that it will now further develop for beta testing and validation for accuracy, precision, sensitivity and specificity in a clinical laboratory, culminating in a 550-patient clinical trial.
This new technique could transform prenatal diagnosis, providing a safe, non-invasive and inexpensive diagnostic test that can be performed as early as six weeks of pregnancy. With no other test like it available, it will compete in the multi-million dollar global market and save the healthcare system hundreds of millions of dollars. The technique will be commercialized through a start-up company that will attract investment and create job opportunities in Canada’s burgeoning high-tech/biotech sector.