荷兰父母对唐氏综合症的诊断和筛查经验。

IF 1.7 4区 生物学 Q3 GENETICS & HEREDITY
Gert de Graaf, Brian G Skotko
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引用次数: 0

摘要

本研究调查了2005年至2024年荷兰父母进行唐氏综合症(DS)筛查和诊断测试的经历。该研究利用荷兰唐氏综合症基金会的在线调查,分析了诊断沟通、父母满意度和筛查考虑的变化。调查结果表明,调查对象接受产前筛查的人数不断上升。然而,在后来的调查中,他们对产前诊断体验的总体满意度较低。值得注意的是,在2024年,39%(16/41)的产前暗示性诊断的父母感到有压力终止妊娠。随着时间的推移,选择不接受筛查的基于价值观的原因,比如欢迎患有残疾的孩子,显著增加。该研究强调了不同医疗保健专业人员在信息充分性和沟通质量方面的差异。研究结果表明,需要改善对接受退行性痴呆筛查和诊断的父母的咨询和支持,特别是在产前。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands.

This study investigates parental experiences with screening and diagnostic testing for Down syndrome (DS) in the Netherlands from 2005 to 2024. Utilizing online surveys from the Dutch Down Syndrome Foundation, the research analyzes changes in diagnostic communication, parental satisfaction, and screening considerations over time. Findings indicate a rising uptake of prenatal screening among survey respondents. Yet, they reported lower overall satisfaction with their prenatal diagnostic experience in later surveys. Notably, 39% (16/41) of parents with a prenatal suggestive diagnosis in 2024 felt pressured to terminate the pregnancy. Values-based reasons for opting out of screening, such as welcoming a child with DS, have significantly increased over time. The study highlights disparities in information adequacy and communication quality across different healthcare professionals. Findings suggest a need for improved counseling and support for parents undergoing DS screening and diagnosis, particularly in prenatal contexts.

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来源期刊
CiteScore
3.50
自引率
5.00%
发文量
432
审稿时长
2-4 weeks
期刊介绍: The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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