Prenatal Cell-Free DNA Sequencing and Intrahepatic Cholangiocarcinoma

Authors

Ian S. Goldlust, Surgery Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Michael V. Gormally, Cellular Therapeutics Services, Memorial Sloan Kettering, New York, NY.
Sara Teichholtz, Department of Psychiatry, Washington DC Veterans Affairs Medical Center, Washington, DC.
Amy E. Turriff, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
James J. Harding, Gastrointestinal Oncology and Early Drug Development Services, Memorial Sloan Kettering, New York, NY.
Diana W. Bianchi, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.

Document Type

Journal Article

Publication Date

6-1-2025

Journal

JCO precision oncology

Volume

9

DOI

10.1200/PO-25-00186

Abstract

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.

APA Citation

Goldlust, Ian S.; Gormally, Michael V.; Teichholtz, Sara; Turriff, Amy E.; Harding, James J.; and Bianchi, Diana W., "Prenatal Cell-Free DNA Sequencing and Intrahepatic Cholangiocarcinoma" (2025). GW Authored Works. Paper 7483.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/7483

Department

Psychiatry and Behavioral Sciences