LETTER

Newborn screening for Duchenne muscular dystrophy

E P Parsons¹, D M Bradley², A J Clarke³

¹ SONMS and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
² Department of Medical Biochemistry, University Hospital of Wales, Cardiff, UK
³ Institute of Medical Genetics, University of Wales College of Medicine

Correspondence to:
Correspondence to Dr Parsons;
parsonsep@cf.ac.uk

Keywords: screening; phenylketonuria; hypothyroidism; cystic fibrosis; muscular dystrophy; growth

The first 150 words of the full text of this article appear below.

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 . . . [Full text of this article]

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