Identifying signs of hidden cancer in pregnant women

2024

Challenge

Many pregnant women choose to do blood tests to screen their fetuses for conditions associated with chromosome abnormalities, such as Down syndrome. These tests involve sequencing ‘cell-free’ DNA that is circulating in the mother’s blood, which includes DNA from the mother, the baby, and the placenta. In some cases, the test results are inconclusive and may indicate conditions such as fibroids, placental abnormalities, and maternal cancer, but there are no evidence-based recommendations for clinicians to diagnose and treat asymptomatic pregnant women with these results.

Advance

A multidisciplinary team of NIH researchers led by IRP senior investigator Diana Bianchi, M.D., designed a study to identify cell-free DNA sequencing patterns and other biological markers in women’s blood that indicate cancer and determine the best approach to diagnose pregnant women who receive these results. The study, called IDENTIFY (Incidental DEtection of Maternal Neoplasia Through NonInvasive Cell-Free DNA AnalYsis), detected an unexpected cancer in nearly half of its 107 participants, all of whom had previously received unusual or non-reportable results from cell-free DNA sequencing tests. In addition, the researchers found that the most useful way to screen those women for cancer after they received their abnormal test results was whole-body magnetic resonance imaging (MRI), while physical examination and laboratory tests were of limited use. Finally, the IRP team discovered that a specific cell-free DNA sequencing pattern was strongly associated with the presence of cancer.

Impact

The cell-free DNA sequencing pattern revealed by the study could be used to identify pregnant women at high risk for cancer who could benefit from whole-body imaging and biopsies. If those additional tests reveal cancer, the patient could then begin early treatment, which has a much higher chance of success than treating cancer in its later stages.

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