Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test.

ABSTRACT:

Introduction

Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies using cell-free DNA (cfDNA) has been widely adopted in clinical practice due to its improved accuracy. A number of NIPT tests have been developed and validated. The purpose of this study is to evaluate the performance of the Veracity NIPT test for sex chromosome aneuploidy (SCA) detection in singleton pregnancies, autosomal aneuploidy detection in twin pregnancies and evaluation of Veracity clinical performance under routine NIPT conditions in a diverse cohort.

Methods

Blinded retrospective study in singleton pregnancies (n = 305); blinded retrospective and prospective study in twin pregnancies (n = 306) and prospective evaluation of clinical performance in singleton and twin pregnancies (

SUBMITTER: Kypri E 

PROVIDER: S-EPMC6628499 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature