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An Unexpected Result


An image of a baby in the womb that is being used to depict prenatal DNA testing.Pregnant women now have access to noninvasive prenatal tests that are far more accurate than those available just a few years ago. But an unexpected finding has appeared as more and more women take the tests: in rare instances, the tests have shown signs of DNA imbalance in multiple chromosomes that have been caused by undiagnosed cancers in the mother. Their fetuses, however, were perfectly healthy.

Dr. Diana Bianchi, Executive Director of Tufts Medical Center’s Mother Infant Research Institute, has been at the forefront of research that has revolutionized noninvasive prenatal testing and investigated reports of the cancer diagnoses. Dr. Bianchi published her findings in the Journal of the American Medical Association. It is thought that approximately 1 in 1,000 pregnant women have cancer.

“The take-home message is that women should be aware of this possibility when they seek testing and receive abnormal unusual prenatal DNA screening results. More research needs to be done to further study this occurrence to help guide physicians on how to counsel women and manage their follow-up