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比利时接受生殖遗传携带者筛查结果后非孕妇夫妇的体验。

Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium.

机构信息

Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.

Department of Human Genetics, KU Leuven, Leuven, Belgium.

出版信息

Eur J Hum Genet. 2023 Jun;31(6):696-702. doi: 10.1038/s41431-023-01310-2. Epub 2023 Feb 15.

Abstract

Reproductive genetic carrier screening (RGCS) allows for the identification of couples who have an increased likelihood of conceiving a child with a particular autosomal recessive or X-linked condition. The aim of this study was to assess the level of satisfaction, anxiety, knowledge retention, psychosocial and counseling-related aspects among couples who chose to have RGCS. Participants were initially informed about their screening results by telephone. After obtaining a written report of test results, participants were asked to complete an individual self-administered questionnaire. All participants (n = 67) felt they had enough information to make an informed choice. None of the participants regretted their choice to have RGCS. Test results were most often shared with parents (61%) or siblings (37%). Our findings demonstrate that the information/counseling and reporting strategy that was used in the context of this study led to high participant satisfaction, an increase in knowledge over time and favorable psychosocial and counseling-related outcomes.

摘要

生殖遗传携带者筛查 (RGCS) 可识别出夫妇生育特定常染色体隐性或 X 连锁疾病患儿的可能性增加。本研究旨在评估选择 RGCS 的夫妇对满意度、焦虑、知识保留、心理社会和咨询相关方面的水平。最初通过电话向参与者告知他们的筛查结果。在获得测试结果的书面报告后,参与者被要求完成一份个人自我管理问卷。所有参与者(n=67)都认为他们有足够的信息做出明智的选择。没有参与者后悔选择 RGCS。测试结果通常与父母(61%)或兄弟姐妹(37%)分享。我们的研究结果表明,在本研究背景下使用的信息/咨询和报告策略导致了高参与者满意度、随着时间的推移知识的增加以及有利的心理社会和咨询相关结果。

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Ethics of Reproductive Genetic Carrier Screening: From the Clinic to the Population.生殖遗传携带者筛查的伦理:从临床到人群
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Expanded Carrier Screening and the Complexity of Implementation.扩展携带者筛查与实施的复杂性。
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