ArticleBMJ (Clinical research ed.)1993
Cystic fibrosis carrier testing in early pregnancy by general practitioners.
Article in BMJ (Clinical research ed.), 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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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
29 citing papers in PubMed.
- Patient attitudes to type specific serological tests in the diagnosis of genital herpes.Genitourinary medicine · 1997Trial
- Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening.BMJ (Clinical research ed.) · 1995Trial
- Gender Differences in Clinical Presentations of Cystic Fibrosis Patients in Azeri Turkish Population.Tuberculosis and respiratory diseases · 2016Article
- Carrier screening in preconception consultation in primary care.Journal of community genetics · 2012Article
- The challenge of integrating genetic medicine into primary care.BMJ (Clinical research ed.) · 2001Review
- Expanding the role of the family history in primary care.The British journal of general practice : the journal of the Royal College of General Practitioners · 1999Article
- Revalidation.The British journal of general practice : the journal of the Royal College of General Practitioners · 1999Article
- 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
- The role of the general practitioner in cystic fibrosis.Journal of the Royal Society of Medicine · 1999Article
- Costs, effects, and savings of screening for cystic fibrosis gene carriers.Journal of epidemiology and community health · 1998Article
- The new genetics. Implications for clinical services in Britain and the United States.BMJ (Clinical research ed.) · 1998Review
- Funding research in primary care: is Culyer the remedy?The British journal of general practice : the journal of the Royal College of General Practitioners · 1997Article
- Genetic advances: great promise tempered with concern.The British journal of general practice : the journal of the Royal College of General Practitioners · 1997Article
- The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP.Journal of medical genetics · 1997Article
- PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population.American journal of human genetics · 1997Article
- The views of general practitioners on community carrier screening for cystic fibrosis.The British journal of general practice : the journal of the Royal College of General Practitioners · 1996Article
- Genetics in primary care. Report on workshop of EC Concerted Action on Genetics Services in Europe (CAGSE) in association with the Royal College of GP Spring Meeting, Blackpool, UK, 28 April 1995.Journal of medical genetics · 1996Article
- Implications for medical genetics of the House of Commons Science and Technology Committee's report on human genetics.Journal of medical genetics · 1996Article
- Pilot study of the acceptability of cystic fibrosis carrier testing during routine antenatal consultations in general practice.The British journal of general practice : the journal of the Royal College of General Practitioners · 1996Article
- Cost effectiveness of antenatal screening for cystic fibrosis.BMJ (Clinical research ed.) · 1995Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo assess the feasibility of genetic counselling in general practice by using cystic fibrosis carrier screening at the booking appointment as an integral part of routine antenatal care and as a paradigm for the wider participation of general practitioners in medical genetics.
designMaternal testing (male partner tested only if woman screens positive) and couple testing for cystic fibrosis carrier status in the antenatal population attending one general practice and, later, in a further six (outreach) practices also.
settingTwo partner urban training practice (pilot practice) in south Manchester, and six north west practices (two inner city, three urban, one rural dispensing). SUBJECTS: Total practice population of 50,000 (pilot practice plus six outreach practices) with an estimated 500-800 pregnancies per year.
main outcome measures(a) Proportion of carriers of cystic fibrosis identified, counselled, and appropriately managed within the first trimester of pregnancy; (b) questionnaire and interview measures of patient satisfaction and stress.
resultsEleven carriers of cystic fibrosis were detected including one carrier couple. This carrier couple, after extensive counselling, elected to have prenatal diagnosis by chorionic villus biopsy. The fetus was homozygous normal.
conclusionsGeneral practitioners can successfully integrate genetic counselling and cystic fibrosis carrier screening into the first antenatal booking appointment. When a carrier couple is identified clinical geneticists can help with the discussion of reproductive options, and prenatal diagnosis by chorionic villus biopsy can be completed within the first trimester. The results suggest that general practitioners will have an increasingly important role in medical genetics, subject to continuing evaluation of patient acceptability and stress.
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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.