{"title":"荷兰父母对唐氏综合症的诊断和筛查经验。","authors":"Gert de Graaf, Brian G Skotko","doi":"10.1002/ajmg.a.64250","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64250"},"PeriodicalIF":1.7000,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands.\",\"authors\":\"Gert de Graaf, Brian G Skotko\",\"doi\":\"10.1002/ajmg.a.64250\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":7507,\"journal\":{\"name\":\"American Journal of Medical Genetics Part A\",\"volume\":\" \",\"pages\":\"e64250\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2025-09-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"American Journal of Medical Genetics Part A\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1002/ajmg.a.64250\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics Part A","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1002/ajmg.a.64250","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
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.
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 .