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Incidental Diagnosis of Occult Maternal Malignancy With Routine Noninvasive Prenatal Testing During Pregnancy
Eniola R Ibirogba1, Erica Macdonald2, Michael E Tsimis3
1Maternal Fetal Medicine, The Ohio State University Wexner Medical Center, Columbus, USA.
Cureus
|January 24, 2025
Summary
Noninvasive prenatal testing (NIPT) can incidentally detect maternal cancer DNA in pregnant patients. While rare, this finding highlights the need for careful consideration and multidisciplinary management.
Area of Science:
- Genetics
- Oncology
- Maternal-Fetal Medicine
Background:
- Noninvasive prenatal testing (NIPT) is a widely adopted screening method for fetal aneuploidy.
- NIPT analyzes cell-free fetal DNA circulating in maternal blood.
Observation:
- Two cases are presented where routine NIPT revealed unexpected findings suggestive of maternal cancer.
- These incidental findings occurred in otherwise asymptomatic pregnant individuals.
Findings:
- One patient received an "atypical finding" on NIPT, later diagnosed with intrahepatic cholangiocarcinoma.
- Another patient had an "atypical finding of maternal origin" on NIPT, leading to the diagnosis of adrenocortical adenocarcinoma.
Implications:
- NIPT is not validated for cancer screening, and such incidental findings are extremely rare.
- These cases present ethical challenges and underscore the importance of a multidisciplinary approach for managing incidental cancer detection during pregnancy.
Keywords:
cell-free dna (cfdna)noninvasive prenatal testing (nipt)oncofertilitypregnancy in cancerprenatal genetic screeningMore Related Videos
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