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Screen Versus Diagnostic

Many women like Amy Seitz are turning to cell-free fetal DNA screening instead of the traditional, though more invasive, procedures like amniocentesis or chorionic villus sampling to look for fetal chromosomal abnormalities, NPR reports.

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

And that seems to be the case for many women, NPR says, noting that demand for amnio and CVS has declined. "Places are reporting doing fewer than half the number of procedures that were being done previously," University of California, San Francisco's Mary Norton tells NPR.

Experts, though, are concerned that the message that cell-free fetal DNA testing is a screening test, rather than a diagnostic test, may not be getting through. While cell-free fetal DNA screening is better than other screening approaches like ultrasounds and blood protein tests, it is not definitive. Norton notes that some women who receive troubling results from the test and then are referred to her for a follow-up amnio are sometimes confused "because they were under the impression that this was as good as an amnio."

A recent study also suggested that some women might be seeking terminations without confirming the cell-free fetal DNA screening findings. "There's at least some evidence that it's happening to a greater degree than I think many of us are comfortable with," she adds.

While some say that the companies offering the tests may not be making their limitations clear, Northwestern University's Lee Shulman, who has consulted for such companies, says that information is included in marketing materials, but that physicians have little experience with this type of genetic testing.