The efficacy of expanded non-invasive prenatal testing (NIPT) in a high-risk twin pregnancies cohort.

ABSTRACT:

Introduction

Our objective was to evaluate the efficacy of expanded non-invasive prenatal testing (NIPT) that includes both trisomies and copy number variants (CNVs) in high-risk twin pregnancies.

Material and methods

A prospective, double-blinded cohort study was conducted, enrolling 73 high-risk twin pregnancies characterized by increased risk of genetic disorders due to factors such as increased nuchal translucency, structural anomalies, fetal growth restriction, and other factors associated with chromosomal abnormality. Participants underwent invasive karyotyping and chromosomal microarray analysis, alongside separate expanded NIPT for research purposes. The sensitivity, specificity, positive predictive value, and negative predictive value of expanded NIPT were calculate

SUBMITTER: Meng M 

PROVIDER: S-EPMC11609994 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature