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NIPT Tests Find Cancer in Some Pregnant Women

About two dozen women who underwent non-invasive prenatal testing using Sequenom's MaterniT21 Plus learned from that and follow-up testing that they had cancer, reports BuzzFeed News' Virginia Hughes.

As Sequenom said at the Future of Genomic Medicine Conference, it has seen about 40 cases in which its test uncovered maternal genetic profiles that appeared to indicate the mom might have cancer, according to Hughes. Of those, 26 cases were confirmed, including breast, colon, and uterine cancers.

The test examines DNA that floats around in the maternal bloodstream — about 10 percent of circulating DNA in a pregnant woman comes from the fetus — but tumors also shed DNA that the test would then pick up.

But reporting these findings is a little tricky, Hughes notes, as it is unclear whether such incidental findings have diagnostic value and how frequently these findings might be false positives. Additionally, she says that releasing inconclusive findings to patients could draw the attention of the Food and Drug Administration, which doesn't regulate lab-developed tests, while not releasing the information could do patients harm.

Sequenom tells her that it emphasizes to the women's physicians that their test isn't a validated cancer screen. It is, she adds, now working on developing such a test.

Hughes adds that Illumina, which also has a NIPT test, declined to comment; while Ariosa Diagnostics said its test was validated only for prenatal indications; and Natera said its test avoids the issue by looking at the sequence rather than chromosome level.

The Scripps Research Institute's Eric Topol notes that some 800,000 women in the US in the past year have undergone NIPT. "It's the hottest molecular test ever in the history of medicine," he adds.