Importance of single nucleotide polymorphism microarray in prenatal diagnosis.

Abstract

Background: With the increasing number of older pregnant women and environmental pollution, the incidence of congenital malformations increases every year. Prenatal diagnosis is an effective means of identifying congenital malformations.

Objectives: To evaluate the clinical utility of single nucleotide polymorphism (SNP) microarray analysis during prenatal evaluations.

Material and methods: To assess the similarities and differences between the 2 approaches, 425 pregnant women were selected to undergo prenatal gene SNP microarray analysis and karyotype analysis during prenatal evaluation between January 2020 and August 2021.

Results: The success rate of SNP microarray analysis was 100%, which was statistically different from that of karyotype analysis (92%, Fisher's exact test, p < 0.001). The positive rate of SNP detection was 10.4% higher than karyotype analysis, which was 6.6% (Pearson's χ2 test, χ2 = 3.89, degrees of freedom (df) = 1, p = 0.049). Karyotype analysis detected 28 cases of aneuploidy; SNPs could not only detect these results of karyotype analysis, but 16 cases of copy number variations (CNV) with obvious pathogenicity, including duplications/deletions, chimerism and loss of heterozygosity (LOH).

Conclusions: Single nucleotide polymorphism microarray analysis technology is an important method used in prenatal genetic evaluations, which can find fetal genetic etiologies, correctly evaluate the fetal prognosis during prenatal clinical examination, and provide a more objective basis for whether to continue the pregnancy.