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高近亲结婚人群中的遗传疾病产前诊断和妊娠终止实践,沙特阿拉伯。

Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia.

机构信息

Department of Genetic Research, Institute for Research and Medical Consultation (IRMC), Imam Abdulrahman Bin Faisal University, Dammam, 31441, Saudi Arabia.

Department of Obstetrics and Gynaecology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, 31441, Saudi Arabia.

出版信息

Sci Rep. 2019 Nov 21;9(1):17248. doi: 10.1038/s41598-019-53655-8.

DOI:10.1038/s41598-019-53655-8
PMID:31754150
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6872573/
Abstract

The prevalence of consanguineous marriage and genetic disorders are high in Saudi Arabia. There were records on the practices of Saudis toward prenatal diagnosis (PND) and termination of pregnancy (TOP), however the sample sizes are small. This study has targeted the Saudi Arabian community and family history of genetic disorders to determine the practices toward PND and TOP. The cross-sectional survey was conducted among Saudis (n = 2761) to determine their practices toward reproductive-decision making. Regression analysis was conducted to identify the association of the limiting factors, relative merits and family history on the outcomes. Total of 2507 participants returned completed questionnaire. The practice towards PND (68%) were more favorable than TOP (33%). PND was found to be a good opportunity for early diagnosis and gives parent's choice. Education, history with affected baby, prior knowledge and religious belief were significant deciding factors of PND and TOP. Down syndrome (n = 161) and sickle cell anemia (n = 152) were commonly available genetic disorder among participant's family. Respondents with autistic cases in their family have higher acceptance rate for TOP. Non-consanguineous are more willing to consider TOP than consanguineous. Participants with abnormal fetus, aged of > 36 years, married and educated Saudis were more likely consider TOP. Though, religion is the most influencing factor for not accepting TOP, comparatively willingness to PND and TOP have increased recently. Awareness campaigns about PND and TOP may increase the chances of accepting prenatal genetic diagnosis.

摘要

在沙特阿拉伯,近亲结婚和遗传疾病的患病率很高。有记录显示,沙特人对产前诊断(PND)和终止妊娠(TOP)的做法,但样本量很小。本研究针对沙特阿拉伯社区和遗传疾病家族史,以确定对 PND 和 TOP 的做法。这项横断面调查是在沙特人(n=2761)中进行的,以确定他们在生殖决策方面的做法。回归分析用于确定限制因素、相对优点和家族史对结果的关联。共有 2507 名参与者返回了完整的问卷。对 PND(68%)的做法比对 TOP(33%)更有利。PND 被认为是早期诊断的好机会,并给父母提供了选择。教育、有患病婴儿的病史、先前的知识和宗教信仰是 PND 和 TOP 的重要决定因素。参与者的家族中常见的遗传疾病包括唐氏综合征(n=161)和镰状细胞贫血(n=152)。家族中有自闭症病例的受访者对 TOP 的接受率更高。非近亲比近亲更愿意考虑 TOP。有异常胎儿、年龄>36 岁、已婚和受过教育的沙特人更有可能考虑 TOP。尽管宗教是不接受 TOP 的最主要因素,但最近人们对 PND 和 TOP 的意愿有所增加。关于 PND 和 TOP 的宣传活动可能会增加接受产前遗传诊断的机会。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8d3/6872573/8b5dd84f6f37/41598_2019_53655_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8d3/6872573/8b5dd84f6f37/41598_2019_53655_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8d3/6872573/8b5dd84f6f37/41598_2019_53655_Fig1_HTML.jpg

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