Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.
Department of Human Genetics, KU Leuven, Leuven, Belgium.
Eur J Hum Genet. 2023 Jun;31(6):696-702. doi: 10.1038/s41431-023-01310-2. Epub 2023 Feb 15.
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.
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。