ArticleEuropean journal of human genetics : EJHG2018
Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review.European journal of human genetics : EJHG · 2022Pooled it
- Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.European journal of human genetics : EJHG · 2026Review
- Practice patterns for expanded carrier screening among reproductive endocrinology and infertility physicians.Journal of assisted reproduction and genetics · 2026Article
- Patient and health care practitioner experiences and perspectives on expanded carrier screening: A scoping review.Genetics in medicine open · 2026Review
- Article
- Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening.European journal of human genetics : EJHG · 2025Article
- Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.Scientific reports · 2024Article
- Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Carrier screening programs for rare diseases in developed countries and the case of Turkey: A systematic review.Intractable & rare diseases research · 2023Review
- Societal implications of expanded universal carrier screening: a scoping review.European journal of human genetics : EJHG · 2023Article
- Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review.Journal of personalized medicine · 2022Article
- Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer.European journal of human genetics : EJHG · 2021Article
- Molecular classification of blood and bleeding disorder genes.NPJ genomic medicine · 2021Article
- Reproductive options for families at risk of Osteogenesis Imperfecta: a review.Orphanet journal of rare diseases · 2020Review
- Expanded universal carrier screening and its implementation within a publicly funded healthcare service.Journal of community genetics · 2020Review
- The evolving role of genetic tests in reproductive medicine.Journal of translational medicine · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Technological developments have enabled carrier screening for multiple disorders. This study evaluated experiences with a preconception carrier screening offer for four recessive disorders in a Dutch founder population. Questionnaires were completed by 182 attendees pretesting and posttesting and by 137 non-attendees. Semistructured interviews were conducted with seven of the eight carrier couples. Attendees were mainly informed about the existence of screening by friends/colleagues (49%) and family members (44%). Familiarity with the genetic disorders was high. Knowledge after counseling increased (p < 0.001); however, still 9%, compared to 29% before counseling, wrongly mentioned an increased risk of having an affected child if both parents are carriers of different disorders. Most attendees (97%) recalled their test results correctly, but two couples reported being carrier of another disorder than reported. Overall, 63% felt worried while waiting for results but anxiety levels returned to normal afterwards. In all, 2/39 (5%) carriers felt less healthy. Screened individuals were very satisfied; they did not regret testing (97%) and would recommend testing to others (97%). The majority (94%) stated that couples should always have a pretest consultation, preferably by a genetic counselor rather than their general practitioner (83%). All carrier couples made reproductive decisions based on their results. Main reason for non-attendance was unawareness of the screening offer. With expanded carrier screening, adequately informing couples pretest and posttesting is of foremost importance. Close influencers (family/friends) can be used to raise awareness of a screening offer. Our findings provide lessons for the implementation of expanded carrier screening panels in other communities and other settings.
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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.