C. Michael Osborne, Emily Hardisty, Patricia Devers, Kathleen Kaiser-Rogers, Melissa A. Hayden, William Goodnight and Neeta L. Vora Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease Prenatal Diagnosis 33
What's already known about this topic?
- Noninvasive prenatal testing for detection of trisomies 21, 18, and 13 is clinically available and is reported to have a false positive rate of 1% or less
- This technology utilizes massively parallel shotgun sequencing of cell-free DNA, of maternal and placental origin, present in maternal plasma
What does this study add?
- Unexplained abnormal noninvasive prenatal testing results should prompt consideration of a maternal source of the abnormal cell-free DNA, such as malignancy
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