Screening for cystic fibrosis Screening before pregnancy is preferred

BMJ 1994; 309 doi: https://doi.org/10.1136/bmj.309.6950.339 (Published 30 July 1994) Cite this as: BMJ 1994;309:339
  1. J D A Cooper,
  2. A J Franks
  1. Wakefield Healthcare, Wakefield WF1 1LT University of Leeds, Leeds
  2. Human Genetics Unit, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU
  3. Department of General Practice, Medical School, Queen's Medical Centre, Nottingham NG7 2UH.

    EDITOR, - The paper by Sean Livingstone and colleagues produces further evidence that the antenatal context provides a pragmatic answer to the debate about a model for cystic fibrosis screening.1 We wish to make two comments about the paper.

    Firstly, the authors suggest (in table II) that a majority of women, whether entering the trial or not, preferred screening during pregnancy. This is not borne out by the results they present since, although small numbers are involved, 60.5% of the non-participants preferred screening before pregnancy, compared with 46% of the participants. A previous survey of pregnant women found that 98% preferred screening before pregnancy and 69% would accept carrier screening during pregnancy.2 There is actually substantial interest in prepregnancy screening. This is signficant because the acceptability of screening to the general population is likely to alter with the improving clinical picture for cystic fibrosis3 as well as gene therapy.

    Secondly, the authors conclude that although prepregnancy screening “permits some reproductive choice” those choices are unlikely to be pursued. The experience from screening programmes for Tay-Sachs disease and thalassaemia are given as evidence. We doubt this for two reasons: the evidence, particularly from Tay-Sachs carrier screening, that carriers exercise reproductive choice by their choice of partner, and also because the examples quoted …

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