Letters Section Editor: Stephen J. Lurie,
MD, PhD, Senior Editor.
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
Wilcken B. Screening of Newborns for Metabolic Disorders With Mass Spectrometry. JAMA. 2004;291(12):1444. doi:10.1001/jama.291.12.1444-b
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