The Necessity of Prenatal Diagnosis by CMA for the Women with NIPS-Positive Results.

ABSTRACT:

Objective

To retrospectively analyze the results of prenatal diagnoses of noninvasive prenatal screening- (NIPS) positive pregnant women and discuss whether there is a need for chromosomal microarray analysis (CMA).

Methods

The study recruited 1,019 NIPS-positive women from two prenatal diagnostic centers. Based on clinical advice, they opted for traditional karyotype analysis or CMA. Single nucleotide polymorphism array testing was performed on a commercial 750K microarray chip (Affymetrix CytoScan 750K Array).

Results

Of the NIPS-positive women, 761 (74.7%) accepted the prenatal diagnosis. There were 418 (54.9%) abnormal results, and most (99.5%) were chromosome aneuploidy or structural abnormalities. Only three cases were confirmed as pathogenic copy number variati

SUBMITTER: Xu J 

PROVIDER: S-EPMC7481948 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature