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Chloe Giglio
Mar 3, 2025
An abnormal prenatal blood test result, not attributable to the fetus, could suggest possible hidden cancer diagnosis in the mother.
Pregnant women get routine prenatal blood tests that screen for genetic abnormalities like Down syndrome in a fetus. These tests work by analyzing small bits of DNA from both the mother and the placenta, called cell-free DNA (cfDNA). An NIH study published in the New England Journal of Medicine on December 4, 2024, found that sometimes, unusual results from these tests can also signal cancer in the pregnant woman, even when she has no symptoms.
Researchers followed 107 pregnant or recently postpartum women whose prenatal cfDNA tests came back as “unusual” or “nonreportable” (meaning the lab couldn’t determine the baby’s results). Nearly half of these women (52, or 48.6%) were found to have "hidden" cancer. The most common cancers were lymphomas, colorectal cancer, and breast cancer. Importantly, many of these women had no warning signs—symptoms were often mistaken as normal pregnancy changes.
To check for cancer, participants underwent whole-body MRI scans, bloodwork, and genetic counseling. Whole-body MRI was the most effective tool, identifying cancer with 98% sensitivity. On the other hand, standard blood tests and physical exams often missed cases.
What this means for patients:
An abnormal or inconclusive prenatal cfDNA test does not mean you have cancer. Noncancerous conditions are still common explanations.
However, unusual results should not be ignored. This study shows they sometimes uncover hidden cancers early enough for potentially lifesaving treatment.
Whole-body MRI appears to be a safe, effective follow-up option for pregnant women with concerning cfDNA results.
Bottom line: Prenatal DNA testing may one day double as an early cancer warning system for mothers, but it was not designed for that purpose and is not a standard screening tool. If you or someone you know receives unusual results, the best step is to discuss timely follow-up and possible imaging with your doctor.
For deeper reading on this research study, the original publication is linked here.
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