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August 23/30, 2006

Newborn Screening for Metabolic Disorders

Author Affiliations

Author Affiliations: Children's Hospital Boston, Harvard Medical School, Boston, Mass.

JAMA. 2006;296(8):993-995. doi:10.1001/jama.296.8.993

Four million newborn infants will receive expanded screening for metabolic disorders in the United States each year; 12 000 will receive a false-positive screening result and more than 1000 will be diagnosed with a metabolic disorder.1,2 While frequent hospitalizations, developmental delay, mental retardation, and death will be prevented in many of these diagnosed children, many others will have a disorder that is mild or benign. Despite uncertainty, expanded newborn screening for a wide variety of rare disorders appears to be here to stay. Currently, 47 states mandate or offer expanded screening.3 The need for research on these conditions and screening programs has never been more pressing.