Clinical study of single nucleotide polymorphism-based chromosome microarray analysis in the etiological diagnosis of fetal congenital heart disease.

ABSTRACT: This study investigates the clinical application of single-nucleotide polymorphisms (SNP)-based chromosome microarray analysis (CMA) in the etiological diagnosis of fetal congenital heart disease (CHD). We 5,116 amniotic fluid samples collected through amniocentesis from January 2022 to December 2024 in Urumqi, Xinjiang, China. Based on fetal ultrasound findings, structural abnormalities, and specific types, CHD was categorized into four groups: isolated CHD, non-isolated CHD, non-CHD, and a normal group. The incidence of aneuploidies were highest in non-isolated CHD cases (16.91%), approximately five times higher than that in cases with isolated CHD (3.8%) (P < 0.001). The incidence of pathogenic copy number variants (CNVs) were similar across groups (2.11%-3.68%). The non-isolated CHD gr

SUBMITTER: Zheng Y 

PROVIDER: S-EPMC12618560 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature