Education And Debate

Controversies in Management: Screening before pregnancy is needed

BMJ 1994; 309 doi: (Published 26 November 1994) Cite this as: BMJ 1994;309:1428
  1. J A Raeburn, professor of clinical geneticsa
  1. aCentre for Medical Genetics, City Hospital, Nottingham NG5 1PD

    Screening before pregnancy is needed

    I believe that carrier testing for the common cystic fibrosis mutation (F508) should be offered in the United Kingdom before conception, to adults who wish it, after receiving and reading an informative explanatory leaflet. This is simple, unambiguous, and relatively inexpensive. The proposal recognises an individual's right to make an informed choice and separates that choice from life situations such as pregnancy, in which there is pressure to consider only specific options.

    Three issues need to be considered: providing and receiving accurate information; whether a person wishes to know if he or she carries a testable mutation of the cystic fibrosis gene; and making a person understand that if the result shows him or her to be a carrier relatives should be told and offered testing.

    The carrier screening programme should not aim to achieve a high uptake of screening. If 10% of the population of reproductive age chose to be tested during the first year it would be acceptable and appropriate. Success depends on a slow initial response as the community learns about cystic fibrosis; uptake could increase as the programme proceeds.

    In …

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