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卡塔尔父母对先天性异常的遗传咨询和儿童基因检测的了解与态度。

Parental knowledge and attitudes toward genetic counseling and childhood genetic testing for congenital anomalies in Qatar.

作者信息

Alkilani Houda M, El-Akouri Karen, Farooq Abdulaziz, Shi Zumin, Al-Shafai Mashael, Stotland Mitchell, Khodjet-El-Khil Houssein

机构信息

Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha, Qatar.

Division of Plastic Surgery, Sidra Medicine, Doha, Qatar.

出版信息

J Genet Couns. 2025 Aug;34(4):e70096. doi: 10.1002/jgc4.70096.

Abstract

This study aims to evaluate parental knowledge and attitudes toward genetic counseling and testing in the context of pediatric plastic surgery in Qatar. It assesses baseline knowledge to identify educational gaps and factors that may contribute to fear or reluctance in managing children with congenital anomalies. Parents of children with congenital anomalies visiting the pediatric plastic surgery clinic at Sidra Medicine participated in an online questionnaire from October 2022 to February 2023. The 37-question survey covered demographics, knowledge, and attitudes toward genetic counseling and testing, with knowledge scores ranging from 1 to 12 (scores above 9 indicating high knowledge). Responses were collected from 160 parents, representing various regions: Asia (26.6%), North Africa 25.3%, the Middle East 20.3%, America/Europe 5.7%, and Qatar 22.2%. Among them, 22.9% reported consanguinity, and 37% had children who underwent genetic testing. American/European parents (p = 0.016) and those with higher education (p = 0.006) showed greater genetic knowledge. Qatari parents had high knowledge 45.7% but lower perceived benefits and higher barriers. Consanguineous parents (p = 0.003) and those referred by medical providers (p < 0.001) had more positive attitudes toward genetic testing, while those with no prior testing experience or without another child with a genetic disorder displayed negative attitudes. This study highlights the need for culturally appropriate education on genetic counseling and testing for parents of children with congenital anomalies. Genetic counselors should consider education levels and consanguinity when discussing genetic testing to empower parents in making informed decisions.

摘要

本研究旨在评估卡塔尔小儿整形外科背景下家长对遗传咨询和检测的了解及态度。它评估基线知识以识别教育差距以及可能导致在管理先天性异常儿童时产生恐惧或不情愿的因素。2022年10月至2023年2月期间,在西德拉医学中心小儿整形外科诊所就诊的先天性异常儿童的家长参与了一项在线问卷调查。这份包含37个问题的调查涵盖了人口统计学、对遗传咨询和检测的了解及态度,知识得分范围为1至12分(得分高于9分表明知识水平高)。共收集到160位家长的回复,他们来自不同地区:亚洲(26.6%)、北非(25.3%)、中东(20.3%)、美洲/欧洲(5.7%)和卡塔尔(22.2%)。其中,22.9%报告有近亲结婚情况,37%的孩子接受过基因检测。美洲/欧洲的家长(p = 0.016)和受过高等教育的家长(p = 0.006)表现出更丰富的遗传学知识。卡塔尔家长知识水平高的占45.7%,但认为的益处较低且障碍较高。近亲结婚的家长(p = 0.003)和由医疗服务提供者转诊的家长(p < 0.001)对基因检测的态度更积极,而那些没有先前检测经历或没有另一个患有遗传疾病孩子的家长表现出消极态度。本研究强调了对先天性异常儿童家长进行文化上合适的遗传咨询和检测教育的必要性。遗传咨询师在讨论基因检测时应考虑教育水平和近亲结婚情况,以使家长能够做出明智的决策。

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