Screening for cystic fibrosis Should begin with cascade screening

BMJ 1994; 309 doi: https://doi.org/10.1136/bmj.309.6958.877c (Published 01 October 1994) Cite this as: BMJ 1994;309:877
  1. M Supern,
  2. M J Schwarz,
  3. G Malone,
  4. T Roberts,
  5. A Haworth,
  6. G Dermody
  1. Regional Genetics Service, Royal Manchester Children's Hospital and University of Manchester, Manchester M27 1HA
  2. Northern Region Genetics Service, Newcastle upon Tyne NE2 4AA.

    EDITOR, - We wish to respond to Theresa Marteau's commentary on our screening programme for carriers of the cystic fibrosis gene.1 The programme, aimed at families and their partners, wishes to increase reproductive options, with most of the women not being pregnant at the time of screening. The increased options are mentioned several times in our paper.

    The Cystic Fibrosis Research Trust's guidelines for bids for funding for carrier screening projects in 1989 began by saying that the main object of screening was to increase reproductive options. They continued, however, by saying that, given the nature of cystic fibrosis, screening programmes would also have as an aim a reduction in the birth of those affected by the disorder. Any genetic screening programme for what is perceived as a serious condition should be regarded as an aid to decisions about termination of pregnancy. This does not imply that there is not free choice over whether to partake in the screening or that every carrier couple detected will opt for prenatal tests and termination of pregnancy. Nevertheless, it is legitimate to monitor what couples do with the information, and …

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