未来父母的观点和经验 诊断性产前基因组测序在持续怀孕中下降 胎儿结构异常
Lisa S Weingarten1, Allison Rosenbaum2, Jessica de Voest3
1Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.
Prenatal diagnosis
|December 3, 2025
概括
未来的父母拒绝产前基因组测序 (pGS) 引用了风险和不清楚的好处. 大多数人对他们的决定感到满意,如果有,许多人更喜欢非侵入性产前测序.
科学领域:
- 遗传学 是一个遗传学.
- 生殖医学 生殖医学
- 生物伦理学生物伦理学
背景情况:
- 产前基因组测序 (pGS) 提供了全面的遗传信息,但其在胎儿结构异常的怀孕中使用的研究不足.
- 了解父母拒绝pGS的决定对于知情的遗传咨询和生殖选择至关重要.
研究的目的:
- 探索潜在父母的经验和决策因素,他们拒绝产前基因组测序 (pGS) 对于胎儿结构异常的怀孕.
主要方法:
- 半结构面试与22名来自16个怀孕的父母进行了半结构面试,他们拒绝了pGS.
- 用专题分析来确定父母决策中的关键主题.
- 这项研究包括了接受入侵手术的父母和没有接受入侵手术的父母.
主要成果:
- 降低pGS的主要原因包括侵入性手术的风险,缺乏可行的发现,不清楚的益处和情绪过度负担.
- 许多参与者对拒绝pGS的决定表示满意,并报告没有产后遗憾.
- 大多数人表示,如果可用,他们更喜欢非侵入性产前测序.
结论:
- 父母拒绝pGS的决定受到医疗/情感风险的感知以及潜在结果的有用性的影响.
- 增强的预测试遗传咨询应解决诊断概率,管理影响,不确定性,隐私以及产后测试的好处/限制.
- 非侵入性产前测序可能是一个替代方案,但需要进一步的研究来概括由于队列限制的发现.
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