Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice.

ABSTRACT:

Objective

This study was to report the experiences on the clinical value of noninvasive prenatal testing (NIPT) for the screening of fetal chromosomal deletions/duplications.

Methods

We performed a retrospective analysis of a cohort of 20,439 pregnancies undergoing NIPT from March 2017 to September 2020 at a single center. Patients with positive NIPT results for fetal chromosomal deletions or duplications had options of invasive diagnostic testing or no further testing. The data were complied from all cases with positive NIPT results for chromosomal deletions/duplications. The positive predictive value (PPV) was calculated from tabulated data.

Results

In this cohort, positive NIPT results for fetal chromosomal deletions/duplications were found in 60 pregnant women. Of

SUBMITTER: Gou L 

PROVIDER: S-EPMC8222853 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature