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Confined placental mosaicism and its impact on confirmation of NIPT results

17 May 2016

Abstract excerpt

Non-invasive prenatal testing (NIPT) has been widely used to screen for common aneuploidies since 2011. While NIPT is highly sensitive and specific, false positive results can occur. One important cause of false positive results is confined placental mosaicism (CPM). This can occur through a mitotic nondisjunction event or through aneuploidy rescue. CPM is usually associated with normal fetal outcomes, but has...

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PMID: 27184347
DOI: 10.1002/ajmg.c.31505

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