<b>PREVALENCE OF COMMON AUTOSOMAL RECESSIVE AND X-LINKED CONDITIONS IN PREGNANT WOMEN IN VIETNAM: A CROSS-SECTIONAL STUDY</b>

<b>Abstract (max 250 words)</b>Background: The prevalence of recessive disorder carriers among Vietnamese women is still indistinct. This study aims to assess the prevalence of recessive disorder carriers and depict some common mutations of these genes.Method: A cross-sectional study was conducted with 8464 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 recessive carrier screening results.Results: 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.Conclusions: 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.

<b>摘要（限250词以内）</b>
背景：越南女性隐性遗传病携带者的患病率迄今尚未明确。本研究旨在评估隐性遗传病携带者的患病率，并明确相关基因的常见突变特征。
方法：本研究为横断面研究，纳入2022年11月至2023年8月期间，于DNA技术与遗传分析研究所接受隐性遗传病携带者筛查的8464名越南孕妇。调研内容包括人口统计学信息及隐性遗传病携带者筛查结果。
结果：本研究共纳入8464名越南孕妇的筛查记录，其中1928名孕妇至少携带1种隐性遗传病致病突变，隐性遗传病携带者患病率为22.8%。孕妇群体中携带率最高的为G6PD基因突变相关的葡萄糖-6-磷酸脱氢酶缺乏症（G6PD deficiency），约每20人便有1名携带者；其次为HBA1与HBA2基因相关的α地中海贫血（Alpha Thalassemia），约每25人便有1名携带者。其他常见隐性遗传病携带者相关基因包括：SRD5A2（5α还原酶缺乏症，5-alpha reductase deficiency），约每27人1名携带者；HBB（β地中海贫血，Beta Thalassemia），约每28人1名携带者；ATP7B（肝豆状核变性，Wilson's disease），约每40人1名携带者；PAH（苯丙酮尿症，Phenylketonuria），约每40人1名携带者；SLC25A13（Citrin缺乏症，Citrin deficiency），约每45人1名携带者。
结论：越南孕妇群体中隐性遗传病携带者的患病率较高，至少每5名孕妇中便有1名携带至少1种隐性致病突变。应鼓励越南孕妇接受隐性遗传病携带者筛查，以降低儿童死亡率，并助力开展有效的妊娠规划与分娩管理。