Tufts Study Finds Prenatal Testing Can Detect Cancer in Mothers

Some women with abnormal results gave birth to healthy babies, but were later diagnosed with cancer.

A new study from Tufts Medical Center found that prenatal genetic testing, traditionally used to detect chromosomal abnormalities like Down syndrome in babies, can also uncover maternal cancers and other conditions.

Diana Bianchi, executive director of the Mother Infant Research Institute at Tufts, led a team of researchers in examining the data of eight women, all of whom had prenatal screenings that came back suggesting chromosomal disorders, but then gave birth to healthy babies. After inspecting the women’s test results, the researchers concluded that the abnormal readings were due to previously undetected cancers in the mother, which made the tested DNA appear to suggest a problem in the fetus.

In a statement, Bianchi said the study’s findings show that the results of  non-invasive prenatal tests are not always as concrete as they may appear:

“Noninvasive prenatal testing results may lead to findings of an underlying maternal condition, which, in these cases, was due to cancer,” said Dr. Bianchi. “The take-home message is that women should be aware of this possibility when they seek testing. 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 care.”

Bianchi also told The Washington Post that it’s important to remember that genetic testing is not designed or intended to diagnose conditions in the mother. “It’s important to emphasize this test was not designed to detect cancer,” Bianchi said. “Given that, this is the crudest possible way of detecting it, and yet it detects it apparently in a sensitive way.”

Nonetheless, since only about one in 1,000 women with undetected cancers are currently diagnosed during pregnancy, the results of this study could someday have far-reaching implications for maternal health.