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

作者：O**orne C Michael; Hardisty Emily; Devers Patricia; Kaiser Rogers Kathleen; Hayden Melissa A; Goodnight William; Vora Neeta L^*

来源：Prenatal Diagnosis, 2013, 33(6): 609-611.

DOI：10.1002/pd.4100

<jats:p><jats:bold>What's already known about this topic?</jats:bold>
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<jats:list-item><jats:p>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</jats:p></jats:list-item>
<jats:list-item><jats:p>This technology utilizes massively parallel shotgun sequencing of cell‐free DNA, of maternal and placental origin, present in maternal plasma</jats:p></jats:list-item></jats:list></jats:p><jats:p><jats:bold>What does this study add?</jats:bold>
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<jats:list-item><jats:p>Unexplained abnormal noninvasive prenatal testing results should prompt consideration of a maternal source of the abnormal cell‐free DNA, such as malignancy</jats:p></jats:list-item></jats:list></jats:p>

• 出版日期2013-6