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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Publication Details

Journal
American Journal of Medical Genetics Part A
Published
2025-09-19
DOI
https://doi.org/10.1002/ajmg.a.64250
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
0.00
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article

Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands

Gert de Graaf, Brian G. Skotko
American Journal of Medical Genetics Part A
Prenatal Screening and Diagnostics
article

Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands

Gert de Graaf, Brian G. Skotko
article en

Abstract

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.

American Journal of Medical Genetics Part AVol. 200(2)
Harvard University (US), Massachusetts General Hospital (US), Rome Foundation (US), Hersenstichting (NL)
Openalex Percentile: Top 64%
Prenatal Screening and Diagnostics
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Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands — Gert de Graaf, Brian G. Skotko · American Journal of Medical Genetics Part A (2025) | TGRS Research Map | TGRS