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Article

Incidental detection of familial <i>APP</i> duplication: an unusual reason for a false positive NIPT result of trisomy 21

4 Feb 2016

Abstract excerpt

What's Already Known About This Topic? Incidental findings such as maternal malignancies and maternal chromosome abnormalities, in particular sex chromosome mosaicism, have been detected by NIPT, but there are no previous reports of detection of late‐onset single gene disorders for the fetus and/or mother. What Does This Study Add? This report highlights the potential for NIPT to predict late-onset genetic...

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Share to Congenital Anomalies and Fetal Surgery
Share to Genomic variations and chromosomal abnormalities
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PMID: 26844948
DOI: 10.1002/pd.4783

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