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

• Egile Nagusiak: Kristjan Eerik Kaseniit (Egilea), Gregory J Hogan (Egilea), Kevin M D'Auria (Egilea), Carrie Haverty (Egilea), Dale Muzzey (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2018-10-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...