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To the Editor: Dr Waisbren and colleagues¹ suggested that expanded newborn screening for metabolic disorders might improve outcomes for children, although their results do not unequivocally support this contention. By contrast, we² have reported that newborn screening by tandem mass spectrometry in New South Wales, Australia, identified about 75% more infants with such disorders than did clinical diagnosis. Unlike the study of Waisbren et al, we had complete population ascertainment of all diagnosed infants born with these disorders, due to our centralized systems in Australia. Similarly increased diagnostic rates have been found elsewhere.³

If these results apply to the population of Waisbren et al in New England, as seems likely, then the comparisons of rates of various medical outcomes in screened and clinically diagnosed cases will not be valid. The clinically identified group of 33 infants might come from a larger affected group, of whom many may be alive but . . . [Full Text of this Article]

Bridget Wilcken, MBChB
The Children's Hospital at Westmead
Sydney, Australia

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