ArticleBMJ (Clinical research ed.)1994
Active cascade testing for carriers of cystic fibrosis gene.
Article in BMJ (Clinical research ed.), 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 97 citations in OpenAlex.
- Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2005Guideline
- Targeted screening in the UK: A narrow concept with broad application.The Lancet regional health. Europe · 2022Review
- Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening.Journal of community genetics · 2018Article
- Psychosocial aspects of preconception consultation in primary care: lessons from our experience in clinical genetics.Journal of community genetics · 2012Article
- Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France.Orphanet journal of rare diseases · 2012Article
- Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.European journal of human genetics : EJHG · 2010Article
- Cascade screening for beta-thalassemia: A practical approach for identifying and counseling carriers in India.Indian journal of community medicine : official publication of Indian Association of Preventive & Social Medicine · 2009Article
- Cystic fibrosis newborn screening and detection of carriers.Archives of disease in childhood. Fetal and neonatal edition · 2003Article
- Estimating the efficacy and efficiency of cascade genetic screening.American journal of human genetics · 2001Article
- Failure to refer for testing for cystic fibrosis. Doctors must ensure that those with a family history are advised appropriately.BMJ (Clinical research ed.) · 2001Article
- Attitudes toward cystic fibrosis carrier and prenatal testing and utilization of carrier testing among relatives of individuals with cystic fibrosis.Journal of genetic counseling · 1999Article
- Cost effectiveness of antenatal screening for cystic fibrosis.BMJ (Clinical research ed.) · 1995Article
- Direct marketing of cystic fibrosis carrier screening: commercial push or population need?Journal of medical genetics · 1995Article
- Carrier screening in the community.Journal of inherited metabolic disease · 1995Review
- The ethics of genetic screening: the first report of the Nuffield Council on Bioethics: another personal view.Journal of medical ethics · 1994Article
- Screening for cystic fibrosis. General practitioners should be involved.BMJ (Clinical research ed.) · 1994Article
- Screening for cystic fibrosis. Antenatal testing has higher yield.BMJ (Clinical research ed.) · 1994Article
- Screening for carriers of cystic fibrosis.BMJ (Clinical research ed.) · 1994Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo examine the acceptability, practicability, efficiency, and application of active screening for carriers of the cystic fibrosis gene in the extended families of those in whom the disease is present (Cascade screening).
designPaediatricians and physicians provide details of their affected patients, pedigrees are drawn up, and relatives offered tests after initial contact by the affected nuclear families. Affected patients are genotyped in a laboratory with a special interest in the genetics of cystic fibrosis.
settingNorth Western health region. SUBJECTS: Relatives and partners of 607 people with cystic fibrosis.
interventionsGenetic counselling by letter for people found to be carriers; formal genetic counselling and when indicated arrangements for prenatal diagnosis for couples discovered to be carriers.
main outcome measuresNumber of carrier couples detected; action in pregnancy of detected carrier couples; extent of the uptake of screening by relatives.
resultsOf 1563 relatives or partners tested, 15 carrier couples were detected; of nine pregnancies undertaken by these 15, eight had prenatal tests and three terminated pregnancies. An average of 16 people per family have come forward for testing so far.
conclusionsCascade screening for carriers of cystic fibrosis is well accepted by relatives, especially on the mother's side of the family; it is 10 times more efficient in detecting carrier couples than unfocused screening. Detected carrier couples make practical use of the information in pregnancy. Active cascade screening for carriers is effective in cystic fibrosis and widespread application is recommended. These principles could be applied to other recessive disorders.
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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.