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苏丹的近亲结婚现象及进行婚前基因筛查的意愿

Consanguinity and willingness to perform premarital genetic screening in Sudan.

作者信息

Elhadi Yasir Ahmed Mohammed, Alrawa Salma S, Alfadul Esraa S A, Mahgoub Esra Abdallah Abdalwahed, El-Osta Austen, Belal Safaa Abdalazeem, Lucero-Prisno Don Eliseo, El Dabbah Noha Ahmed, Yahia Ashraf

机构信息

Department of Public Health, Sudanese Medical Research Association, Khartoum, Sudan.

Faculty of Medicine, University of Khartoum, Khartoum, Sudan.

出版信息

Eur J Hum Genet. 2023 Aug 1. doi: 10.1038/s41431-023-01438-1.

Abstract

Consanguineous marriage is prevalent in certain world regions due to cultural, economic, and social reasons. However, it can lead to negative consequences including an increased risk of genetic disorders in offspring. Premarital genetic screening (PMGS) is an important tool to identify and manage these risks before marriage. This study aimed to assess the magnitude of consanguineous marriage, knowledge of genetic diseases and PMGS, and attitudes and willingness to perform PMGS in Sudan. A national household survey was conducted using a multistage sampling technique, with a sample size of 2272 participants. Data were collected from December 2022 to March 2023 using an interviewer-administered questionnaire. A significant proportion of respondents (364/850, 42.8%) were married to consanguineal partners, with various types of relatedness. Moreover, 32.1% (242/755) of single respondents were planning to marry a close relative, signifying the likely persistence of consanguineous marriages in Sudan. The level of knowledge regarding genetic diseases and PMGS was relatively low in many states of Sudan, indicating the need for increased awareness interventions. A significant number of participants (85.2%) agreed that premarital screening is effective in reducing genetic diseases, whereas 71.2% supported the introduction of a mandatory PMGS program. Excluding married participants, 82.3% (1265/1537) of respondents were willing to perform PMGS, if implemented. These findings reflect the public positive attitude towards introducing the PMGS program and policies in Sudan and underscore the importance of addressing the knowledge gap of PMGS before such a potential implementation.

摘要

由于文化、经济和社会原因,近亲婚姻在世界某些地区很普遍。然而,它可能会导致负面后果,包括后代患遗传病的风险增加。婚前基因筛查(PMGS)是在结婚前识别和管理这些风险的重要工具。本研究旨在评估苏丹近亲婚姻的规模、对遗传病和婚前基因筛查的了解,以及对进行婚前基因筛查的态度和意愿。采用多阶段抽样技术进行了一项全国性家庭调查,样本量为2272名参与者。2022年12月至2023年3月期间,使用访谈员管理的问卷收集数据。很大一部分受访者(364/850,42.8%)与有血缘关系的伴侣结婚,血缘关系类型各异。此外,32.1%(242/755)的单身受访者计划与近亲结婚,这表明苏丹近亲婚姻可能会持续存在。苏丹许多州对遗传病和婚前基因筛查的了解程度相对较低,这表明需要加强提高认识的干预措施。大量参与者(85.2%)同意婚前筛查在减少遗传病方面有效,而71.2%的人支持引入强制性婚前基因筛查计划。排除已婚参与者后,如果实施婚前基因筛查,82.3%(1265/1537)的受访者愿意进行筛查。这些发现反映了苏丹公众对引入婚前基因筛查计划和政策的积极态度,并强调了在潜在实施婚前基因筛查之前解决其知识差距的重要性。

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