SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold.

ABSTRACT: The aim of the study was to assess the diagnostic potential of SNP-based chromosomal microarray analysis for detecting pathogenic copies number variations (CNVs) in fetuses with a normal karyotype, in which an increase in the nuchal translucence of >2.5 mm was detected by ultrasound at a gestational age of 11 weeks to 13 weeks 6 days.

Materials and methods

The study included 225 pregnant women who underwent invasive prenatal diagnostic procedures following the detection of an isolated thickening of the fetal nuchal fold. The fetal material obtained was examined using a cytogenetic test; if a normal karyotype was confirmed, chromosomal microarray analysis was performed as a second-line test.

Results

Pathogenic CNVs were detected in 22 of 225 fetuses (9.8%) with a normal

SUBMITTER: Kievskaya JK 

PROVIDER: S-EPMC8858397 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature