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Washington, D.C. – Abnormal results from prenatal blood tests designed to screen for fetal chromosomal disorders may also uncover hidden cancers in pregnant individuals, according to new research from the National Institutes of Health (NIH). The findings, published in the New England Journal of Medicine, reveal that 48.6% of pregnant participants with abnormal prenatal cell-free DNA (cfDNA) test results were found to have previously undiagnosed cancers.
The study identified a range of cancers, including colorectal, breast, lung, pancreatic, and renal cancers, as well as lymphoma and cholangiocarcinoma. Researchers also highlighted that cfDNA tests, which analyze placental DNA fragments in the maternal bloodstream to detect chromosomal abnormalities or determine a fetus’s sex, can inadvertently pick up abnormal DNA linked to maternal conditions, including cancers.
The study forms part of the NIH’s ongoing IDENTIFY project, which aims to explore the implications of abnormal cfDNA test results. For this analysis, researchers examined 107 participants using advanced diagnostic tools such as whole-body magnetic resonance imaging (MRI), cfDNA sequencing, and standard medical assessments.
Of the 52 participants diagnosed with cancer, whole-body MRI emerged as the most reliable method for detecting malignancies, significantly outperforming traditional techniques like medical history reviews and physical examinations in identifying cancers or their locations.
However, not all abnormal cfDNA test results pointed to cancer. Other explanations included benign uterine fibroids, placental chromosomal variations, and clonal hematopoiesis—a precancerous condition in the mother’s blood cells.
“This research underscores the potential of cfDNA testing to detect maternal cancers early, even when symptoms are absent,” said lead author Dr. Amy Turriff from the National Human Genome Research Institute. “However, further studies are essential to refine the use of cfDNA sequencing and to validate patterns that might indicate cancer in young, asymptomatic pregnant populations.”
The study was conducted by scientists from the NIH’s National Human Genome Research Institute, National Cancer Institute, and Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
Future Implications
The researchers emphasized the need for heightened awareness and follow-up protocols for abnormal cfDNA results during pregnancy. They also noted that understanding these signals could lead to earlier detection and treatment of maternal cancers, potentially saving lives.
The full study can be accessed in the New England Journal of Medicine.
For more details, refer to Amy E. Turriff et al, Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer, New England Journal of Medicine (2024). DOI: 10.1056/NEJMoa2401029.
