ArticleJournal of genetic counseling2015
"Suddenly Having two Positive People who are Carriers is a Whole New Thing" - Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia.
Article in Journal of genetic counseling, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses 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.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 35 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
- Parental decision-making following a prenatal diagnosis that is lethal, life-limiting, or has long term implications for the future child and family: a meta-synthesis of qualitative literature.BMC medical ethics · 2019Pooled it
- Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.European journal of human genetics : EJHG · 2026Review
- Psychosocial outcomes of reproductive genetic carrier screening up to five years post-result.European journal of human genetics : EJHG · 2026Article
- Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening.European journal of human genetics : EJHG · 2025Article
- Article
- The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.Journal of personalized medicine · 2022Article
- Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review.Journal of personalized medicine · 2022Article
- Comparison of Patients' Ethical Perspectives of Preimplantation Embryo Genetic Testing for Aneuploidy (PGT-A) vs. Monogenic Disorders (PGT-M).Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- First French study relative to preconception genetic testing: 1500 general population participants' opinion.Orphanet journal of rare diseases · 2021Article
- Social and cultural influences on genetic screening programme acceptability: A mixed-methods study of the views of adults, carriers, and family members living with thalassemia in the UK.Journal of genetic counseling · 2020Article
- Cost-effectiveness of the CFTR gene-sequencing test for asymptomatic carriers in the Colombian populationBiomedica : revista del Instituto Nacional de Salud · 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
- "I didn't take it too seriously because I'd just never heard of it": Experiential knowledge and genetic screening for thalassaemia in the UK.Journal of genetic counseling · 2019Article
- How do genetically disabled adults view selective reproduction? Impairment, identity, and genetic screening.Molecular genetics & genomic medicine · 2018Article
- A systematic analysis of online marketing materials used by providers of expanded carrier screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples.Journal of genetic counseling · 2018Article
- Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making.Health affairs (Project Hope) · 2018Article
- Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening.Journal of community genetics · 2018Article
- Attitudes Toward Discussing Approved and Investigational Treatments for Cystic Fibrosis in Prenatal Genetic Counseling Practice.Journal of genetic counseling · 2017Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A population-based CF carrier screening program was implemented in Victoria, Australia in 2006. This study explored the experiences of couples when both partners were identified as CF carriers. Between January 2006 and December 2010, 10 carrier couples were identified and invited to undertake a semi-structured interview. Nine interviews were conducted, seven couple interviews and two individual interviews. One couple declined to participate due to the recent termination of an affected pregnancy. Interviews were analyzed using inductive content analysis. All couples experienced surprise on learning their carrier couple result. The couples who were pregnant at the time of screening chose to have prenatal diagnosis, with the majority considering it to be the "next step." The two couples who had an affected pregnancy reported feelings of devastation and grief upon receiving their prenatal diagnosis result and terminated the pregnancy. All carrier couples were offered free genetic counseling, with only one couple declining the offer. Couples were unprepared for a positive carrier couple result. However, all the couples changed their reproductive behavior as a result of their carrier status. The results of this study have been used to inform the program and service offered to CF carrier couples particularly with respect to genetic counseling for reproductive decision making.
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