Application value of NIPT for uncommon fetal chromosomal abnormalities.

ABSTRACT:

Objective

To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities.

Methods

The study included 6239 pregnant women with singletons in the first and second trimester of pregnancy who received NIPT from December 2017 to June 2019. For pregnant women at high risk of deletion, duplication, and sex chromosome abnormalities indicated by NIPT, amniocentesis was recommended for karyotype analysis and chromosome copy number variation detection to verify the NIPT results and analyze chromosome abnormalities. Women at low risk and with no other abnormal results continued with their pregnancies.

Results

Among the 6239 pregnant women who received NIPT, there were 15 cases of chromosomal d

SUBMITTER: Yin L 

PROVIDER: S-EPMC7456042 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature