Performance evaluation of noninvasive prenatal testing on 24 chromosomes in a cohort of 118,969 pregnant women in Sichuan, China.

ABSTRACT:

Objective

This study aimed to comprehensively analyze the detection capacity of non-invasive prenatal testing (NIPT) for chromosomal abnormalities of all 24 chromosomes, as well as high-risk indications for pregnancy and the fetal fraction, in a large cohort.

Methods

We retrospectively enrolled 118,969 pregnant women who underwent NIPT at Sichuan Provincial Maternity and Child Health Care Hospital from March 2019 to June 2022. The sensitivity, specificity, positive predictive value, negative predictive value, and positive chromosomal abnormality rate were calculated. The fetal fraction based on gestational age, maternal body mass index, and number was examined.

Results

NIPT demonstrated > 99% sensitivity and specificity for almost all of the common trisomies (T21, T18

SUBMITTER: Qin S 

PROVIDER: S-EPMC11406609 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature