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March 24/31, 2004

Screening of Newborns for Metabolic Disorders With Mass Spectrometry

Author Affiliations

Letters Section Editor: Stephen J. Lurie, MD, PhD, Senior Editor.

JAMA. 2004;291(12):1444. doi:10.1001/jama.291.12.1444-b

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