JAMA: Noninvasive prenatal tests can pinpoint cancer in mothers

Dr. Diana Bianchi

Amid increased demand for noninvasive prenatal genetic tests, a new study shows that the tools can do more than pinpoint fetal abnormalities, turning up previously undiagnosed cancer in mothers.

Researchers looked at a database with more than 125,000 maternal blood samples submitted to diagnostics giant Illumina ($ILMN) between 2012 and 2014, including 3,757 cases that were positive for at least one chromosomal abnormality such as Down syndrome. Scientists looked in depth at 8 cases of women who had abnormal noninvasive prenatal testing results, and found that even though their fetuses had normal chromosomes, the abnormal results came from a slew of undiagnosed cancers. The research team published their findings online in the Journal of the American Medical Association (JAMA).

Among the 8 women in the Illumina-sponsored study, three ended up having their cancers diagnosed because of the abnormal test results, The Wall Street Journal reports. But more research still needs to be done before physicians can use the results to counsel and manage patients' follow-up care, lead study author Dr. Diana Bianchi of Tufts University, said in a statement.

"Noninvasive prenatal testing results may lead to findings of an underlying maternal condition, which, in these cases, was due to cancer," Bianchi said. "The take-home message is that women should be aware of this possibility when they seek testing."

The results come as demand for noninvasive prenatal tests reaches a new high. Even though the tests are recommended only for women at high-risk of carrying fetuses with genetic abnormalities, they are still generating buzz among patients, the WSJ notes. More than 2 billion tests have been performed worldwide since the products hit the market in 2011, Bianchi told the newspaper.

Sequenom's Dirk van den Boom

And this is not the first time the tests were linked with cancer diagnosis in pregnant women. In March, Illumina archrival Sequenom ($SQNM) unveiled new results that show its MaterniT21 test can detect signs of cancer in pregnant women. The test, which uses a maternal blood sample to screen for fetal abnormalities, turned up accurate results in 26 cases, a potentially game-changing finding as Sequenom looks for an edge in a highly competitive market.

But the company is also weighing the ethical implications of its findings, deciding whether or not to tell women before they are screened that MaterniT21 could identify cancer. Sequenom CSO Dr. Dirk van den Boom said the company has struggled about what to do with results, but favors disclosing the information.

- read the Tufts University statement
- here's the WSJ story (sub. req.)
- get the JAMA study abstract

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