Maternal Malignancy and Noninvasive Prenatal Testing

>> Catherine Dolf: The JAMA Network [ Silence ] This increasingly common blood test can help detect whether a woman is carrying a fetus with a genetic abnormality

>> The test analyzes not only the DNA fragments from the fetus and the placenta, but it analyzes DNA fragments from the mother herself >> Catherine Dolf: For every 1000 women tested, about two will have an abnormal result it's recommended that those women have additional diagnostic testing, looking at only the fetal DNA >> In a small minority of women, the test showed that the fetal chromosomes were normal, and that disagreed with the blood test We were examining whether cancer could explain the discrepancy between these two test results >> Catherine Dolf: Dr

Diana W Bianchi from Tufts Medical Center and co-authors examined more than 125,000 noninvasive prenatal test results done over a two-year period 3757 women had abnormal test results Ten of those women were subsequently diagnosed with cancer >> If she does have cancer, there's the possibility that she is shedding DNA from these tumors into her blood

>> Catherine Dolf: Medical records and additional genetic information were examined in eight of those women to look for patterns suggestive of an underlying cancer >> In the women with cancer, there is a characteristic pattern of imbalance of the genetic information >> Catherine Dolf: Study appears in JAMA, Journal of the American Medical Association >> There's a very rare situation in which the mother has cancer Cancer DNA can cause a discrepancy between the prenatal fetal genetic screening tests and the fetal chromosome test

>> Catherine Dolf: All 10 women diagnosed with cancer delivered healthy babies >> Even though the test was not designed to detect cancer, cancer is a incidental finding If you recognize the proper signatures, then you can go on and have further care >> Catherine Dolf: Catherine Dolf, the JAMA Report

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