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Article

Contribution of maternal copy number variations to false‐positive fetal trisomies detected by noninvasive prenatal testing

2 Feb 2017

Abstract excerpt

Abstract Objective The aim of the study was to determine the contribution and significance of maternal copy number variations (CNVs) to false‐positive noninvasive prenatal testing (NIPT) trisomy results. Methods A total of 112 021 patients were referred for NIPT. Fetal aneuploidy testing was performed using low coverage massively parallel sequencing, and results reported as chromosome Z‐scores. Copy number...

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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: 28152582
DOI: 10.1002/pd.5014

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