Having a baby should be a joyful experience, but for many women, there’s an increased risk for complications. That’s when genetic testing becomes essential.
One example is called targeted testing, where doctors look at particular populations at high risk for certain conditions and provide targeted counseling. Disorders involving underlying chromosomal abnormalities and neural tube defects are also a consideration. All pregnant patients should receive counseling for both.
Who’s most vulnerable?
Among ethnic groups, African-American women need to be screened for sickle cell disease, while women of Mediterranean or French Canadian descent should be checked for thalassemia. With the Ashkenazi Jewish population, physicians screen for entire panels of disorders, including Tay-Sachs, Gaucher disease and Niemann-Pick disease.
Aspiring dads may also need to be tested.
“The best example is cystic fibrosis,” says Dr. Errol Norwitz, Chairman of the Department of Obstetrics and Gynecology at Tufts Medical Center, “We screen the mother using a particular genetic test. If the mother is negative, we don’t do any further testing. If she’s positive, the next step is to check the father of the baby.”
Before conceiving
If considering becoming pregnant, a woman should be checked for a variety of conditions, including diabetes and hypertension. Females 35 and older should be tested for Down syndrome, as well.
In addition, if there’s a significant family history of genetic disorders, sophisticated testing can be performed.
Education is key
Dr. Norwitz says testing can be very complicated, so teaching doctors and other clinical providers how to counsel their patients is extremely important.
He adds, “Genetic counselors are vastly underutilized. Genetics as a field is exploding. It’s very hard to keep up with all the data.”