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Article

Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non‐invasive prenatal testing and implications for test accuracy

17 Jun 2015

Abstract excerpt

What's already known about this topic? Non‐invasive prenatal testing (NIPT) of cell‐free DNA from maternal plasma is a sensitive method of identifying pregnancies at risk of trisomies 21, 18 and 13. This technology analyses both maternal and fetal cell‐free DNA in the maternal plasma. Abnormal NIPT results should be confirmed with invasive testing. What does this study add? Structural imbalances of fetal...

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Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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PMID: 26151667
DOI: 10.1002/pd.4636

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