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接受或拒绝妊娠前期扩展载体查:一项对407对夫妇的探索性研究
Ariane J A G Van Tongerloo1, Hannah Verdin1, Wouter Steyaert1
1Center for Medical Genetics Ghent, University Hospital Ghent, Ghent, Belgium.
Journal of genetic counseling
|April 13, 2024
概括
大多数考虑怀孕的夫妇接受了扩展载体查 (ECS) 后,它被提供. 影响决策的关键因素包括年龄,教育,以及对生殖信息和控制的渴望.
科学领域:
- 医学遗传学 医学遗传学
- 生殖医学 生殖医学
- 遗传咨询 遗传咨询
背景情况:
- 扩展载体查 (ECS) 使用先进的基因组技术来识别伴侣在后代中面临严重遗传疾病的风险.
- 预设ECS的目的是为潜在的父母提供生殖选择的信息,并促进决策.
- 有限的数据存在于临床吸收和决策因素与怀孕前的ECS相关.
研究的目的:
- 为了描述夫妇的特征,在特定的医学遗传中心提供了预先概念ECS.
- 为了确定夫妇接受或拒绝BeGECS (比利时遗传ECS) 测试的原因.
- 了解在临床环境中采用全面的ECS小组的情况.
主要方法:
- 在2019年10月至2023年1月期间,在根特大学医院 (CMGG) 医学遗传中心对407对夫妇进行了调查,他们接受了BeGECS.
- 参与者填写了问卷,详细说明了他们接受或拒绝测试的决定以及他们的动机.
- 进行了统计分析,以比较接受和拒绝ECS的夫妇之间的特征.
主要成果:
- 在407对夫妇中,提供了BeGECS,有270 (66%) 接受,137 (34%) 拒绝.
- 接受测试的夫妇年龄大得多,受过高等教育.
- 接受的主要原因包括预防,信息收集,生殖规划和加强控制;减少的原因包括对信息的焦虑,不变的生殖计划,成本问题和缺乏感知到的家族史风险.
结论:
- 大多数被提供全面ECS的预孕夫妇接受了测试,这表明对生殖遗传信息的需求很高.
- 诸如年龄和教育水平等人口因素影响了ECS的采用.
- 了解患者接受或拒绝ECS的动机对于遗传咨询和服务提供至关重要.
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