Prenatal Genetics discussion with experts from the Harvey Genetic Institute

Prenatal genetic testing can now screen for hundreds of health problems

In the past few years, the number of prenatal genetic screening and diagnostic tests has exploded. Dr. Natalie Blagowidow, medical director of the Harvey Institute for Human Genetics at GBMC, and genetic counselor Amy Kimball talked with Mary Beth Marsden and Don Scott about the impact of the growing number of prenatal genetic tests and how a geneticist can help parents-to-be understand the results of these tests and make informed decisions.

“We now have more than 200 prenatal genetic tests that can help determine the risk for a wide range of conditions, from Down syndrome to cystic fibrosis,” says Dr. Blagowidow. “A number of these tests, which are non-invasive, are offered to all pregnant women. The benefit of genetic testing and screening, especially for people who have a family history of genetically-based health problems, is that we can identify problems earlier. And for some of these conditions, there are treatments that can be given in the first few months of life that can have a positive impact on the baby’s health.”

Dr. Blagowidow and Amy also fielded questions on whether popular testing services like Ancestry DNA and 23andMe provide helpful information for people planning to have a family, what support services are available if testing does find genetic abnormalities, and new blood tests for expectant mothers that can sometimes take the place of invasive prenatal tests such as amniocentesis.

“Faced with all the information we can now get about genetics, it’s important to have a discussion with your OB/GYN or a genetic counselor so that you can understand the results of any tests you choose to undergo and make informed decisions,” explains Amy. “And if you do have a family history of genetic conditions, consider talking to a geneticist before you get pregnant about screening tests for recessive genes that can cause genetic abnormalities if both parents carry the gene. With the information and counseling, you’ll be better prepared to make the right choice for your family.”