Nonreportable Cell-Free DNA Prenatal Screening Test Leads to Colorectal Cancer Diagnosis in the Mother

Cell-free DNA, DNA from the developing placenta, is a noninvasive prenatal screening test to detect common fetal chromosomal abnormalities. Rarely, nonreportable results occur when the test cannot accurately determine the fetus chromosomal status. This can be due to low fetal fraction, insufficient DNA, or multiple aneuploidies, which can suggest maternal malignancy. Workup of occult malignancy in pregnancy is challenging. Most malignancies reported to date have been lymphomas. We describe the case of a pregnant patient without cancer risk factors who, following a nonreportable Cell-free DNA test, presented with abdominal pain and intermittent blood per rectum and was ultimately diagnosed with metastatic colon cancer.

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Publication Details

Journal
ACG Case Reports Journal
Published
2025-11-01
DOI
https://doi.org/10.14309/crj.0000000000001880
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
0.00
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article

Nonreportable Cell-Free DNA Prenatal Screening Test Leads to Colorectal Cancer Diagnosis in the Mother

Maria P. Diaz-Soto, Scott A. Shainker, Jessica A. Zerillo, Aaron Hakim et al.
ACG Case Reports Journal
Prenatal Screening and Diagnostics
article

Nonreportable Cell-Free DNA Prenatal Screening Test Leads to Colorectal Cancer Diagnosis in the Mother

Maria P. Diaz-Soto, Scott A. Shainker, Jessica A. Zerillo, Aaron Hakim, Jacqueline L. Wolf
article en

Abstract

Cell-free DNA, DNA from the developing placenta, is a noninvasive prenatal screening test to detect common fetal chromosomal abnormalities. Rarely, nonreportable results occur when the test cannot accurately determine the fetus chromosomal status. This can be due to low fetal fraction, insufficient DNA, or multiple aneuploidies, which can suggest maternal malignancy. Workup of occult malignancy in pregnancy is challenging. Most malignancies reported to date have been lymphomas. We describe the case of a pregnant patient without cancer risk factors who, following a nonreportable Cell-free DNA test, presented with abdominal pain and intermittent blood per rectum and was ultimately diagnosed with metastatic colon cancer.

ACG Case Reports JournalVol. 12(11)
Beth Israel Deaconess Medical Center (US)
Openalex Percentile: Top 53%
Prenatal Screening and Diagnostics
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Nonreportable Cell-Free DNA Prenatal Screening Test Leads to Colorectal Cancer Diagnosis in the Mother — Maria P. Diaz-Soto, Scott A. Shainker, et al. · ACG Case Reports Journal (2025) | TGRS Research Map | TGRS