DNA Blood Test Gives Women A New Option For Prenatal Screening

Ultrasound is often used for prenatal screening. It's just one of several prenatal screenings available to pregnant women. iStockphoto hide caption

Ultrasound is often used for prenatal screening. It's just one of several prenatal screenings available to pregnant women.

When Amy Seitz got pregnant with her second child last year, she knew that being 35 years old meant there was an increased chance of chromosomal disorders like Down syndrome. She wanted to be screened, and she knew just what kind of screening she wanted a test that's so new, some women and doctors don't quite realize what they've signed up for.

This kind of test , called cell free fetal DNA testing, uses a simple blood sample from an expectant mother to analyze bits of fetal DNA that have leaked into her bloodstream. It's only been on the market since October of 2011 and is not regulated by the Food and Drug Administration - the FDA does not regulate this type of genetic testing service. Several companies now offer the test, including Sequenom and Illumina. Insurance coverage varies and doctors often only offer this testing to women at higher risk because of things like advanced maternal age.

"I think that I initially heard about it through family and friends," says Seitz. "They had had the option of it given to them by their doctors."

To her, it sounded great. She didn't want an invasive procedure like amniocentesis or chorionic villus sampling (CVS). Those are considered the gold standard for prenatal genetic testing, but doctors must put a needle into the womb to collect cells that contain fetal DNA, which means a small risk of miscarriage.

During amniocentesis, a needle is inserted through a woman's abdomen into the amniotic sac. A sample of fluid is extracted and screened for genetic disorders such as Down syndrome.

"I wasn't interested in going as far as getting an amniocentesis because of the risk associated with that," she explains, "and so when I heard about this test, that was part of the reason that I was most interested in it."

This new way of testing fetal DNA seemed to have already become fairly common where Seitz used to live, in Washington, D.C. But she had recently moved to Alabama, and the clinic she went to there wasn't as familiar with it although when she talked to her doctor, she learned they'd just had a visit from a company's sales representative.

"I think it was a fairly new test for them at that point, but she was interested in pursuing it further to see what needed to be done," Seitz says.

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DNA Blood Test Gives Women A New Option For Prenatal Screening