Research Article

Screening for carriers of cystic fibrosis through primary health care services.

BMJ 1991; 303 doi: (Published 31 August 1991) Cite this as: BMJ 1991;303:504
  1. E K Watson,
  2. E Mayall,
  3. J Chapple,
  4. M Dalziel,
  5. K Harrington,
  6. C Williams,
  7. R Williamson
  1. Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, Imperial College, London.


    OBJECTIVE--To evaluate the uptake of cystic fibrosis carrier testing offered through primary health care services. DESIGN--Carrier testing for cystic fibrosis was offered to patients of reproductive age through primary health care services. SETTING--Three general practice surgeries and four family planning clinics in South West Hertfordshire District Health Authority. SUBJECTS--Over 1000 patients aged 16-44 attending two general practices and four family planning clinics and a stratified random sample of patients aged 16-44 from one general practice's age-sex register. RESULTS--When screening was offered opportunistically the uptake was 66% in general practice and 87% in family planning clinics. Ten per cent of those offered a screening appointment by letter took up the invitation. Of the screened population, 76% had previously heard of cystic fibrosis, 35% realised it is inherited, and 18% realised that carriers need not have any family history. If they found themselves in an "at risk" partnership 39% would consider not having children and 26% would consider terminating an affected pregnancy, but in each case most people were unsure how they would react. CONCLUSIONS--Most people offered a cystic fibrosis test opportunistically wish to be tested, and the responses of those tested indicate that knowledge of carrier state would be considered in future reproductive decisions.