父母在荷兰对唐氏综合征的诊断和查的经验
Gert de Graaf1, Brian G Skotko2,3
1Dutch Down Syndrome Foundation, Meppel, the Netherlands.
American journal of medical genetics. Part A
|September 19, 2025
概括
父母对唐氏综合征 (DS) 诊断测试的满意度随着时间的推移而下降,因为终止怀孕的压力越来越大,并且基于价值观的原因选择退出增加. 需要改进咨询服务.
科学领域:
- 医学遗传学 医学遗传学
- 生殖健康 生殖健康
- 卫生社会学 卫生社会学
背景情况:
- 对于唐氏综合征 (DS) 的产前查已经显著发展.
- 父母的经验和对DS诊断途径的满意度是研究的关键领域.
- 了解查普及和决策的趋势对于医疗保健提供者来说至关重要.
研究的目的:
- 调查父母在2005年至2024年期间在荷兰对唐氏综合征查和诊断测试的经验.
- 分析随着时间的推移,诊断沟通,家长满意度和查考虑的变化.
- 在产前诊断过程中识别信息和沟通质量的差异.
主要方法:
- 由荷兰唐氏综合症基金会管理的在线调查.
- 从2005年到2024年,对父母的经历进行了纵向分析.
- 诊断沟通,满意度和决策因素的定量和定性评估.
主要成果:
- 在受访者中,对唐氏综合征的产前查的使用率有所增加.
- 近年来,父母对产前诊断经验的整体满意度有所下降.
- 在2024年具有产前暗示性诊断的父母中,很大一部分 (39%) 报告说,他们感到被迫终止怀孕.
- 选择不接受查的基于价值观的理由,包括欢迎患有DS的孩子的愿望,显著增加.
- 在不同的医疗保健专业人员中,在信息充足度和沟通质量方面发现了差异.
结论:
- 对父母进行唐氏综合征查和诊断的辅导和支持越来越需要.
- 改善医疗保健专业人员的沟通质量和信息提供是至关重要的.
- 这些发现强调了在产前诊断决策中尊重父母自主权和价值观的重要性.
相关概念视频
01:19Autism Spectrum Disorder
987
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
987
01:17Karyotyping
68.1K
Overview
68.1K
01:30Oppositional Defiant Disorder
642
A persistent pattern of angry or irritable mood, defiant behavior, or vindictiveness characterizes Oppositional Defiant Disorder (ODD). Symptoms must occur over at least six months, involve interactions with individuals beyond siblings, and meet specific diagnostic criteria to be clinically significant. The disorder affects emotional regulation, social interactions, and behavior, often manifesting early in life and influencing long-term development and functioning.
Diagnostic Criteria and...
Diagnostic Criteria and...
642
01:29Psychological and Sociocultural Causes of Schizophrenia
481
Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
481