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Screening of Newborns for Metabolic Disorders With Mass Spectrometry—Reply
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In Reply: We agree with Dr Wilcken that our study did not "unequivocally" demonstrate clinical benefit for children with metabolic disorders detected through expanded newborn screening, especially as variant forms of a number of the disorders are likely to be detected.1 However, in our study the near elimination of mental retardation in children identified by expanded newborn screening compared with a rate of 40% in clinically identified cases attests to its benefit in some children.
Nonetheless, only continued follow-up of identified children will provide information regarding the long-term consequences of these disorders. Studies determining associations between the specific newborn screening findings and clinical outcomes are necessary. Further studies are also needed to establish protocols for confirming the presence and severity of metabolic disorders identified by expanded newborn screening. Such protocols may lead to reductions in the number of false-positive identifications, better differentiation between variant and true disease, and minimization of . . . [Full Text of this Article]
Susan Waisbren, PhD
susan.waisbren@childrens.harvard.edu
Children's Hospital Boston
Boston, Mass
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