Goldlust Ian S, Gormally Michael V, Teichholtz Sara, Turriff Amy E, Harding James J, Bianchi Diana W
Surgery Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Cellular Therapeutics Services, Memorial Sloan Kettering, New York, NY.
JCO Precis Oncol. 2025 Jun;9:e2500186. doi: 10.1200/PO-25-00186. Epub 2025 Jun 11.
Prenatal cell-free DNA (cfDNA) sequencing is a screening method that utilizes circulating cfDNA in maternal blood to identify fetal chromosomal abnormalities. Beyond its primary application in prenatal care, cfDNA sequencing can detect occult maternal malignancies before they manifest clinically, presenting a critical window for early therapeutic intervention. Here we report a single case in detail from the Incidental DEtection of maternal Neoplasia Through non-Invasive cell-Free DNA analysis (IDENTIFY) study, in which an abnormal cfDNA sequencing result from an asymptomatic pregnant woman identified locally advanced cholangiocarcinoma. Her disease was successfully treated with a multi-modal approach, and she achieved an ongoing complete response.
产前游离DNA（cfDNA）测序是一种筛查方法，它利用母体血液中循环的cfDNA来识别胎儿染色体异常。除了在产前护理中的主要应用外，cfDNA测序还可以在隐匿性母体恶性肿瘤出现临床症状之前进行检测，为早期治疗干预提供关键窗口。在此，我们详细报告了一例来自“通过非侵入性游离DNA分析偶然发现母体肿瘤（IDENTIFY）”研究的病例，其中一名无症状孕妇的cfDNA测序结果异常，被诊断为局部晚期胆管癌。她的疾病通过多模式方法成功治疗，并实现了持续的完全缓解。
