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The study reports on eight cases where noninvasive prenatal tests revealed cancer in the mother.

Dr. Neeta Vora

Noninvasive prenatal screening tests may detect underlying maternal conditions, including cancer, in the mother, according to a study published today [July 13] in the Journal of the American Medical Association on which Dr. Neeta Vora, a clinical geneticist and assistant professor of maternal-fetal medicine at UNC’s Department of Obstetrics and Gynecology, is co-author.

Noninvasive prenatal screening tests analyze fragments of placental and maternal DNA that circulate in the maternal plasma to report information about possible chromosomal abnormalities in fetuses.

Dr. Vora and the reproductive genetics team within the Division of Maternal-Fetal Medicine at UNC-Chapel Hill were the first scientists to report maternal cancer explaining an abnormal noninvasive prenatal screening test. That study, “Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease,” was published in Prenatal Diagnosis in 2013. The study published today reports on this patient and seven others where noninvasive prenatal tests revealed cancer in the mother.

“This study highlights that previously undetected maternal cancers can provide a biologic explanation for noninvasive prenatal screening results that are discordant from prenatal diagnostic tests. Although maternal cancer during pregnancy is rare, it is important for providers and patients to be aware that abnormal screening results can have implications for the fetus and the mother, ” said Dr. Vora, who is also the director of reproductive genetics at UNC-Chapel Hill.

The article, “Noninvasive Prenatal Testing Incidentally Detect Occult Maternal Malignancies,” comes from a team of scientists and clinicians led by Diana W. Bianchi, M.D., executive director of the Mother Infant Research Institute as well as vice chair for pediatric research at Floating Hospital for Children at Tufts Medical Center.

Read the full release here