The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities

Abstract Objective This study aimed to evaluate the effectiveness of single nucleotide polymorphism microarray (SNP-Array) in the etiological diagnosis of fetal cardiac ultrasound abnormalities. Methods A total of 2092 pregnant women who underwent prenatal diagnosis from 2017 to 2022 were included in the study and divided into four groups based on the presence of ultrasound structural abnormalities and the type of abnormality. The results of the SNP-Array test in amniotic fluids in different groups were analyzed. Results The non-CHD had the highest incidence of aneuploidy, overall chromosomal abnormalities, and trisomy 18, showing significant statistical differences compared to the other groups(p＜0.001). In terms of CNV segment size distribution frequency, there was no statistical difference between the isolated congenital heart defect group and the non-isolated congenital heart defect group (p＞0.05). The occurrence rates of 22q11.2 and 15q11.2 were also not statistically different between the isolated congenital heart defect group and the non-isolated congenital heart defect group (p＞0.05). Conclusion SNP-Array improves the ability to detect of abnormal CNVs in CHD fetuses, providing valuable assistance in diagnosing chromosomal etiology and genetic counseling.