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Newborn screening for Duchenne muscular dystrophy
  1. E P Parsons1,
  2. D M Bradley2,
  3. A J Clarke3
  1. 1SONMS and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
  2. 2Department of Medical Biochemistry, University Hospital of Wales, Cardiff, UK
  3. 3Institute of Medical Genetics, University of Wales College of Medicine
  1. Correspondence to Dr Parsons;
    parsonsep{at}cf.ac.uk

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Elliman, Dezateux, and Bedford,1 in their recent leading article on newborn and childhood screening, include reference to newborn screening for Duchenne muscular dystrophy (DMD). They argue that the main value of such a screening programme is to warn parents that future sons may be affected, and support this statement with reference to Jarvinen et al.2 This paper does not report a newborn screening study but the results of a retrospective study of 23 females in Finland carrier tested for DMD during childhood. However, a newborn screening programme for DMD has been running in Wales since 1990 (1990–8 as a research evaluation and from 1998 health authority funded). During the research period interim evidence was published.3–6 More recently the full results of our prospective study have been published.7 Our evaluation has demonstrated that a newborn screening programme for DMD can be acceptable to both parents and health professionals, providing that a rigorous service delivery protocol is in place and the programme is supported by an effective infrastructure, in particular by paediatric and genetic services.

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