The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases.

ABSTRACT:

Background

Chromosomal abnormalities are the main cause of birth defects in newborns. Since the inception of noninvasive prenatal testing (NIPT) technology, it has primarily been applied to the detection of common trisomy (T21, T18, T13). However, the application of NIPT in microdeletion and microduplication detection is still controversial.

Methods

This study retrospectively analyzed the data of 68,588 cases that underwent NIPT at Ganzhou Maternal and Child Health Hospital in China. These data were used to evaluate the performance of NIPT in fetal chromosome microdeletion/microduplication detection and to investigate the key factors affecting the NIPT performance.

Results

A total of 281 cases (0.41%) had positive NIPT results with copy number variants (CNVs), of whic

SUBMITTER: Shen S 

PROVIDER: S-EPMC11190309 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature