Validation of a SNP-based Non-invasive Prenatal Test to Detect the Fetal 22q11.2 Deletion in Maternal Plasma Samples

Overview

Journal PLoS One

Specialties General Medicine
Science

Date 2018 Feb 24

PMID 29474437

Citations 14

Authors

Harini Ravi

Gabriel McNeill

Shruti Goel

Steven D Meltzer

Nathan Hunkapiller

Allison Ryan

Brynn Levy

Zachary P Demko

Affiliations

Soon will be listed here.

Abstract

Introduction: Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma has been widely adopted. Recently, NIPT coverage has expanded to detect subchromosomal abnormalities including the 22q11.2 deletion. Validation of a SNP-based NIPT for detection of 22q11.2 deletions demonstrating a high sensitivity (97.8%) and specificity (99.75%) has been reported. We sought to further demonstrate the performance of a revised version of the test in a larger set of pregnancy plasma samples.

Methods: Blood samples from pregnant women (10 with 22q11.2-deletion‒affected fetuses and 390 negative controls) were successfully analyzed using a revised SNP-based NIPT for the 22q11.2 deletion. The sensitivity and specificity of the assay were measured.

Results: Sensitivity of the assay was 90% (9/10), and specificity of the assay was 99.74% (389/390), with a corresponding false positive-rate of 0.26%.

Discussion: The data presented in this study add to the growing body of evidence demonstrating the ability of the SNP-based NIPT to detect 22q11.2 deletions with high sensitivity and specificity.

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