Early Non-Invasive Prenatal Diagnosis

Prenatal diagnosis by amniocentesis or chorionic villi sampling carries a risk of miscarriage, is costly and can only be done by specialists in a small number of centers. Therefore, these diagnostic tests are usually only offered after an earlier prenatal screening test result or fetal ultrasound shows an increased risk for chromosomal abnormality, and results are often not known until 17 weeks of gestation.

Experts at Mount Sinai Hospital have developed a safe, non-invasive and less expensive test, easily done by a variety of health care professionals, to detect fetal chromosome abnormalities and single-gene disorders. Available to all pregnant people, this technique is similar to a PAP smear and can be performed as early as the sixth week of pregnancy. With no other test like this available, it will help deliver better prenatal care and compete in the multi-million-dollar global market.

The technique will be commercialized through a start-up company that will attract investment and create jobs in Ontario’s growing healthcare and biotech sectors.


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