Detecting pregnant women with genetic mutations 5 alpha reductase by technique next-generation genomic sequencing

Abstract

Objectives: Description of the proportion of pregnant women carrying mutations in the 5 alpha reductase gene in a group of pregnant women undergoing NIPT prenatal screening at the Vietnam Medical Genetics Institute from April 2022 to July 2023. Subjects: 783 pregnant women of Vietnamese ethnicity, singleton pregnancy, had blood samples taken in Hai Phong, had NIPT prenatal screening for the fetus, and wanted to be tested for SRD5A2 gene mutation at the Institute of Medical Genetics from April 2022 to July 2023. Methods: Cross-sectional descriptive study. Results: Among 783 pregnant women participating in genetic testing to find mutations, 39 pregnant women carried the SRD5A2 gene mutation, accounting for 4.98%. Among them, 34 pregnant women carried 1 SRD5A2 gene mutation and 05 pregnant women carried the SRD5A2 gene mutation with 1 other gene mutation in the group of 09 recessive genes analyzed in the test. All 39 pregnant women carrying the SRD5A2 gene mutation had the c.680G>A (p.Arg227Gln) mutation.