ArticlePrenatal diagnosis2022
Views of patients and parents of children with genetic disorders on population-based expanded carrier screening.
Article in Prenatal diagnosis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed.
- Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.European journal of human genetics : EJHG · 2026Review
- "We've done our due diligence": Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic condition.European journal of human genetics : EJHG · 2026Article
- Prospective parents' views on reproductive genetic carrier screening: "You know better, you do better".Journal of genetic counseling · 2025Article
- Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.European journal of human genetics : EJHG · 2025Article
- Parental genetic knowledge and attitudes toward childhood with genetic disorders.Frontiers in genetics · 2024Article
- Reproductive Counseling and Care in Cystic Fibrosis: A Multidisciplinary Approach for a New Therapeutic Era.Life (Basel, Switzerland) · 2023Review
- Preconception Expanded Carrier Screening: A Discourse Analysis of Dutch Webpages.Healthcare (Basel, Switzerland) · 2023Article
- Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss.Prenatal diagnosis · 2022Article
- Views of patients and parents of children with genetic disorders on population-based expanded carrier screening.Prenatal diagnosis · 2022Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveFaster and cheaper next generation sequencing technologies have enabled expansion of carrier screening for recessive disorders, potentially facilitating population-based implementation regardless of ancestry or family history. Little is known, however, about the attitudes regarding population-based carrier screening among families with genetic disorders. This study assessed views among parents and patients with a recessive disorder and parents of children with Down syndrome (DS) on expanded carrier screening (ECS).
methodIn total, 85 patients with various recessive disorders, 110 parents of a child with a recessive disorder and 89 parents of a child with DS participated in an online survey in the Netherlands. Severity of recessive disorders was classified as mild/moderate or severe/profound.
resultsThe majority of the (parents of) patients with a recessive disorder had a positive attitude towards population-based ECS, including screening for their own or their child's disorder. DS parents were significantly less positive towards ECS. Subgroup analyses showed that the severity of the disorder, rather than being a patient or parent, influences the attitudes, beliefs and intention to participate in ECS.
conclusionOur findings have important implications for future implementation initiatives as they demonstrate the different perspectives from people with experiential knowledge with genetic disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.