Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease

Authors

  • C. Michael Osborne,

    1. University of North Carolina at Chapel Hill School of Medicine, Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Chapel Hill, NC, USA
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  • Emily Hardisty,

    1. University of North Carolina at Chapel Hill School of Medicine, Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Chapel Hill, NC, USA
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  • Patricia Devers,

    1. Verinata Health, Inc., Department of Clinical Affairs, Redwood City, CA, USA
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  • Kathleen Kaiser-Rogers,

    1. University of North Carolina at Chapel Hill School of Medicine, Department of Pathology and Laboratory Medicine, Chapel Hill, NC, USA
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  • Melissa A. Hayden,

    1. University of North Carolina at Chapel Hill School of Medicine, Department of Pathology and Laboratory Medicine, Chapel Hill, NC, USA
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  • William Goodnight,

    1. University of North Carolina at Chapel Hill School of Medicine, Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Chapel Hill, NC, USA
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  • Neeta L. Vora

    Corresponding author
    1. University of North Carolina at Chapel Hill School of Medicine, Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Chapel Hill, NC, USA
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  • Funding sources: None.

  • Conflicts of interest: Patricia Devers is an employee of Verinata Health, Inc.

Abstract

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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