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Updated: Aug 8, 2025

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
Multiple Myeloma Detected by Noninvasive Prenatal Testing
Katherine A Devitt1,2, Juli-Anne Gardner1,2
1Larner College of Medicine, University of Vermont, Burlington, VT.
Objectives:
Noninvasive prenatal testing (NIPT) has become a widely used screening method to detect fetal aneuploidies using cell-free fetal DNA (cffDNA) obtained from maternal blood. It is noninvasive, highly sensitive and specific, and can be offered in the first trimester of pregnancy. Though the goal of NIPT is to detect abnormalities in fetal DNA, occasionally abnormalities are detected that are not attributable to the fetus. Tumor DNA is laden with abnormalities and, rarely, NIPT has detected occult malignancy in the mother. Maternal malignancy in pregnancy is relatively uncommon, estimated at 1 in 1,000 pregnant women. We present a case of a 38-year-old woman diagnosed with multiple myeloma after abnormal NIPT testing results.

