Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Jun:9:e2500186.
doi: 10.1200/PO-25-00186. Epub 2025 Jun 11.

Prenatal Cell-Free DNA Sequencing and Intrahepatic Cholangiocarcinoma

Ian S Goldlust  1 , Michael V Gormally  2 , Sara Teichholtz  3   4 , Amy E Turriff  5 , James J Harding  6 , Diana W Bianchi  5   7
Affiliations

Prenatal Cell-Free DNA Sequencing and Intrahepatic Cholangiocarcinoma

Ian S Goldlust et al. JCO Precis Oncol. 2025 Jun.

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.

PubMed Disclaimer

References

    1. Turriff Amy E. et al. “Prenatal cfDNA sequencing and incidental detection of maternal cancer” In: N Engl J Med 2024; 391:2123–2132. - PMC - PubMed
    1. Bianchi Diana W et al. “DNA sequencing versus standard prenatal aneuploidy screening”. In: N Engl J Med 370.9 (2014), pp. 799–808. - PubMed
    1. Dharajiya Nilesh G et al. “Incidental detection of maternal neoplasia in noninvasive prenatal testing”. In: Clinical chemistry 64.2 (2018), pp. 329–335. - PubMed
    1. Rose Nancy C et al. “Screening for fetal chromosomal abnormalities: ACOG practice bulletin, number 226”. In: Obstetrics & Gynecology 136.4 (2020), e48–e69. - PubMed
    1. Bianchi Diana W et al. “Noninvasive prenatal testing and incidental detection of occult maternal malignancies”. In: Jama 314.2 (2015), pp. 162–169. - PubMed

LinkOut - more resources