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More Than Bargained For

In addition to picking up fetal chromosomal abnormalities, non-invasive prenatal screening tests have also uncovered multiple instances of maternal cancer, according to a paper appearing in the Journal of the American Medical Association this week.

As GenomeWeb has reported, researchers led by Tufts University's Diana Bianchi conducted a retrospective analysis of more than 125,000 plasma cell-free DNA samples analyzed by Illumina between February 2012 and September 2014 for fetal chromosomal aneuploidies.

Some 3 percent of these samples were positive for multiple aneuploidies, and a portion of these NIPT results were discordant with follow-up fetal karyotyping results. Among these discordant results, 10 cases of maternal cancer were later reported.

"When the test first came out we didn't think about cancer being a possibility," Bianchi, who is on an Illumina advisory panel, tells the Wall Street Journal. "I've been working in this field for 25 years, and it's something that we never expected to find."

Sequenom, which also offers NIPT screening, recently reported that about two dozen women learned through its screening and follow-up testing that they had cancer.

This, Bianchi tells MIT's Technology Review, underscores the need for better informing mothers-to-be of what could be found through NIPT screens

"This is a very interesting incidental finding because it's something that potentially you need to take immediate action about," she adds at the Journal.