Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens

Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens

Abstract Background Noninvasive prenatal screening (NIPS) of common aneuploidies using cell-free DNA from maternal plasma is part of routine prenatal care and is widely used in both high-risk and low-risk patient populations. High specificity is needed for clinically acceptable positive predictive v...

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Bibliographic Details
Main Authors: Kristjan Eerik Kaseniit, Gregory J Hogan, Kevin M D’Auria, Carrie Haverty, Dale Muzzey
Format: Article
Language:English
Published: BMC 2018-10-01
Series:BMC Medical Genomics
Subjects:
Noninvasive prenatal screening
Copy-number variant
Microdeletion
Variant interpretation
Online Access:http://link.springer.com/article/10.1186/s12920-018-0410-6

Internet

http://link.springer.com/article/10.1186/s12920-018-0410-6

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