ArticlePrenatal diagnosis2019
Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple-based approach and examination of couples' views.
Article in Prenatal diagnosis, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review.Prenatal diagnosis · 2021Pooled it
- Considering seriousness in preconception carrier screening: a framework to support policy deliberation.Journal of community genetics · 2026Review
- Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.European journal of human genetics : EJHG · 2026Review
- Scaling-up and future sustainability of a national reproductive genetic carrier screening program.NPJ genomic medicine · 2023Article
- Ethical considerations in gene selection for reproductive carrier screening.Human genetics · 2022Review
- Article
- 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
- Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population.Journal of community genetics · 2021Article
- Ethics of Reproductive Genetic Carrier Screening: From the Clinic to the Population.Public health ethics · 2021Article
- Ethical issues in reproductive genetic carrier screening.The Medical journal of Australia · 2021Article
- Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").European journal of human genetics : EJHG · 2021Article
- Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.Molecular genetics & genomic medicine · 2020Article
- GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?European journal of human genetics : EJHG · 2020Article
- Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple-based approach and examination of couples' views.Prenatal diagnosis · 2019Article
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9 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundExpanded carrier screening (ECS) is aimed at detecting carrier states for autosomal recessive (AR) or X-linked conditions in couples from the general population planning a pregnancy. ECS is currently usually offered on an individual basis despite the fact that, for AR conditions, only carrier couples are at risk of affected offspring. In this paper, we present a couple-based ECS test-offer for AR conditions, where results are offered as couple-results only, and describe how couples view such an offer. METHODS AND
resultsAn online survey covering attitudes, perceived difficulty, and intention to take up couple-based ECS was used to examine couples' views. Results show that in 76% of the participating couples there is no objection at all towards receiving couple-results only. Most couples display similar views. Observed discrepancies usually involved one of the couple members having a positive view, whilst the other was neutral. Although views stayed strikingly stable after discussion, the partner's opinion was regarded as important in deciding whether or not to have testing.
conclusionThis study shows that most couples do not object to receiving couple rather than individual ECS results, have similar views towards the offer, and are able to discuss differences in views and intentions.
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