Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.

ABSTRACT:

Purpose

To evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) and compare its effectiveness in screening for chromosomal aneuploidies with that of NIPT.

Methods

Screening results, confirmatory invasive testing results, and follow-up data from pregnant women who underwent either NIPT (6792 cases) or NIPT-Plus (5237 cases) testing at Luohe Central Hospital, China, from January 2019 to June 2023 were collected. The positive predictive value (PPV), sensitivity, specificity, and other indicators for different types of chromosomal abnormalities in NIPT/NIPT-plus screening were calculated. The willingness of pregnant women with various types of abnormalities to undergo confirmatory invasive testing and the proportion of pregnancy terminations we

SUBMITTER: Yang S 

PROVIDER: S-EPMC11759987 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature