N Engl J Med

Prenatal cfDNA sequencing reveals unexpected maternal cancers

December 6, 2024

Study design: The IDENTIFY observational study examined the incidental detection of maternal cancer through prenatal cell-free DNA (cfDNA) sequencing. Researchers analyzed data from 107 pregnant women who underwent cfDNA testing for fetal aneuploidy screening between 2013 and 2020.

Results: A total of 52 cases of suspected maternal malignancies based on abnormal cfDNA results were identified. Follow-up confirmed 47 of these cases as true positives, including various types of cancer such as lymphoma, leukemia, and breast cancer.

Impact on clinical practice: While the primary purpose of cfDNA testing is to screen for fetal aneuploidies, abnormal results may warrant further investigation for maternal malignancies. This incidental finding could lead to earlier diagnosis and treatment, highlighting the importance of considering maternal health in prenatal care.

Sources:

Turriff, A., et al. (2024, December 4). N Engl J Med. Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer. https://www.nejm.org/doi/full/10.1056/NEJMoa2401029

NIH. (2024, December 4). Abnormal prenatal blood test results could indicate hidden maternal cancers. [News release]. https://www.nih.gov/news-events/news-releases/abnormal-prenatal-blood-test-results-could-indicate-hidden-maternal-cancers