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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 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...