Prevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study

The prevalence of recessive disorder carriers among Vietnamese women is still indistinct. This study aims to assess the prevalence of carriers for common autosomal recessive and X-linked conditions among Vietnamese pregnant women and to identify common mutations within these genes. A cross-sectional study was conducted with 8,464 Vietnamese pregnant women with indications for carrier screening tests for recessive disorders from November 2022 to August 2023 at the Institute of DNA Technology and Genetic Analysis. The survey includes demographic information, and the genetic screening was conducted using next-generation sequencing (NGS) techniques, focusing on 13 specific recessive conditions. 8,464 Vietnamese pregnant women's records were involved in this study. 1,928 of them carried at least one genetic recessive condition, representing the frequency of a recessive disorder was 22.8%. The highest recessive disorders rate among pregnant women was found for the G6PD gene mutation (G6PD deficiency) at a rate of about 1 in 20 individuals, followed by the HBA1 and HBA2 gene mutations (Alpha Thalassemia) at a rate of about 1 in 25. Other common recessive carrier genes included SRD5A2 (5-alpha reductase deficiency) at a rate of about 1 in 27, HBB (Beta Thalassemia) at a rate of about 1 in 28, ATP7B (Wilson's disease) at a rate of about 1 in 40, PAH (Phenylketonuria) at a rate of about 1 in 40, and SLC25A13 (Citrin deficiency) at a rate of about 1 in 45. The prevalence of recessive carriers among Vietnamese pregnant women is high, and at least 1 in 5 pregnant women carries one recessive gene. It is essential to encourage Vietnamese pregnant women to conduct recessive carrier screening tests to reduce mortality rates among children and to implement effective pregnancy planning and childbirth.