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Maternal Malignancy Evaluation After Discordant Cell-Free DNA Results

Carlson, Laura M. MD; Hardisty, Emily MS; Coombs, Catherine C. MD; Vora, Neeta L. MD

doi: 10.1097/AOG.0000000000002474
Contents: Current Commentary

Cell-free DNA screening for fetal aneuploidy is a commonly used testing strategy in pregnancies at high risk for fetal aneuploidy. The use of cell-free DNA screening is expanding to the low-risk population, because the detection rate for trisomy 21 surpasses that of traditional screening modalities. Although the sensitivity and specificity of cell-free DNA are superior to traditional screening, false-positive results do occur and may indicate an adverse maternal health condition, including maternal mosaicism or, rarely, malignancy. The risk of maternal cancer is significantly elevated when more than one aneuploidy is detected that is discordant from fetal karyotype. Given this risk as well as the rising incidence of cancer in pregnancy, patient counseling and malignancy evaluation should be considered in women when more than one aneuploidy is detected. We reviewed the published literature and developed an algorithm to evaluate women when these results are identified.

A maternal malignancy evaluation should be considered in women who receive cell-free DNA results consistent with more than one aneuploidy that are discordant from fetal karyotype.

Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, and the Department of Internal Medicine, Division of Hematology/Oncology, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

Corresponding author: Laura M. Carlson, MD, 3010 Old Clinic Building, CB#7516, Chapel Hill, NC 27599-7516; email:

Funded by Eunice Kennedy Shriver National Institute of Child Health and Human Development BIRCWH K12 Grant HD001441 (Dr. Vora) and K23 HD088742 (Dr. Vora).

Financial Disclosure The authors did not report any potential conflicts of interest.

Presented as a poster at the International Conference on Prenatal Diagnosis and Therapy, July 9–12, 2017, San Diego, California.

Each author has indicated that she has met the journal's requirements for authorship.

© 2018 by American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved.