It wasn’t hard for Shara Watkins to get pregnant, it was hard to stay pregnant. In 2016, she was devastated by two miscarriages. Finally, through the the aid of several medical interventions, she and her husband Robert successfully conceived again last year. They were elated when she reached her second trimester, the phase when the highest risk of miscarriage subsides.
Unfortunately the San Mateo couple’s struggles continued. Shara spent four months of her pregnancy on bedrest, so when their doctor offered extensive genetic testing to check the health of their fetus, the couple leaped at the opportunity. Plus, Shara had a history of rare disease in her family.
“I had a high-risk pregnancy, and there had been a lot of complications prior to this,” says Shara. “And, so I just wanted to have all the information that I could.”
In the past, a doctor may have screened a parent for a few suspect diseases common to their specific ethnicity or family history, but now a growing number of companies offer extensive panels testing for hundreds of rare diseases.
“Over the last 10 to 20 years the number of genetic disorders that we are able to test for has exploded,” says Mary Norton, a prenatal geneticist at UCSF.