Innovator: Matt Rabinowitz Sifts Gene Data for Healthy Pregnancies

Ten years ago, prenatal screenings gave a clean bill of health to Matt Rabinowitz’s nephew. The tests didn’t show that he had Down syndrome, which raises infant mortality risks. The boy died six days after birth. While Rabinowitz mourned, the Stanford-educated data scientist began to research genetic testing. “It just seemed amazing to me that that would happen in the 21st century,” he says.

Traditional screenings during a pregnancy’s first trimester miss 15 percent of Down syndrome cases and yield false positives 5 percent of the time. False alarms can lead to more invasive diagnostics, such as amniocentesis and chorionic villus sampling, which are highly accurate but increase risk of miscarriage. In the past three years, four companies have developed noninvasive tests that predict the risk of birth defects by analyzing fetal DNA that’s mingled with the mother’s blood. Rabinowitz’s company, Natera, introduced the newest of these tests in March.