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May support CK assay for neonatal DMD screening; leaves open real-world outcomes and implementation.
Early diagnosis of Duchenne musclar dystrophy is crucial if genetic counselling is to be offered to women at risk of carrying the relevant gene. The age at diagnosis is still unacceptably late,1 and we recently showed that screening programmes in infants are inadequate2; thus interest in neonatal screening has increased. Screening of infants has shown that assay of creatine kinase activity fulfils the criteria that should be satisfied by any technique used in neonatal screening programmes.3 Despite the lack of effective treat? ment neonatal screening programmes exist in some countries4 and the prevention of secondary cases has been put forward as a justifiable reason for introducing neonatal screening,5 although there are ethical prob? lems with this argument. We determined the attitudes of mothers towards neonatal screening for Duchenne muscular dystrophy.
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Smith et al. (1990) studied this question.
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