Can NIPT testing be used for screening for pregnant women's cancer?

According to BuzzFeed News Virginia Hughes, more than 20 women who received Sequenom's Materni T21 Plus (mainly used to detect fetal Down syndrome) non-invasive prenatal testing (NIPT) detected cancer in current and subsequent tests.

According to Sequenom's description of the Future Genome Medicine Conference, about 40 tests revealed the mother's genomic map, indicating that the mother may have cancer, and 26 of them were confirmed to have breast, colon and uterine cancer.

This test detects free DNA in the blood of pregnant women - about 10% of circulating DNA in pregnant women comes from the fetus, but the tumor also releases DNA, which is then detected.

However, reporting these findings is a bit tricky, Hughes pointed out, because it is unclear whether these accidental findings have diagnostic value and how often these results have false positives. In addition, she said, the inconclusive information on patient release will attract FDA attention.

Sequenom said that they emphasized to these women's doctors that their tests are not a validated screening for effective cancer, and they are currently trying to develop such screening.

Hughes added that Illumina also has NIPT testing, and they declined to comment. Ariosa Diagnostics said the diagnostic method is only suitable for prenatal diagnosis. Natera said their tests avoided the problem because they were detection sequences rather than chromosomal levels.

According to Eric Topol of the Scripps Research Institute in the United States, approximately 800,000 women in the United States underwent NIPT testing last year. “This is the hottest molecular test in medical history,” he said.