Clinical experience of genome-wide non-invasive prenatal testing as a first-tier screening test in a cohort of 59,771 pregnancies.

ABSTRACT:

Objective

Genome-wide non-invasive prenatal testing (GW-NIPT) for prenatal screening has been widely implemented. However, the related clinical data is still insufficient. Here, we evaluated the clinical performance of GW-NIPT as a first-tier screening test for detecting fetal aneuploidy and copy number variation (CNV).

Methods

The study included 59,877 pregnant women who underwent GW-NIPT at Shenzhen Baoan Women's and Children's Hospital, China, from November 2017 to May 2021. NIPT was performed on the BGISEQ-500 platform. Fetal karyotype analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization were used for invasive diagnostic procedures, and postnatal outcomes were collected.

Results

Among 59,877 pregnant women who underwent GW-NIPT, 5

SUBMITTER: Zhen J 

PROVIDER: S-EPMC12360580 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature