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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

Article first published online: 4 APR 2013 | DOI: 10.1002/pd.4100

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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