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Am J Public Health. 2005 Nov;95(11):1889-93. Epub 2005 Sep 29.

Newborn screening for developmental disabilities: reframing presumptive benefit.

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University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-8180, USA.


A fundamental tenet of newborn screening is that screening should lead to a proven benefit for the infant. The standard is usually construed as medical benefit that significantly improves a child's health. Screening for many conditions that cause developmental disabilities does not currently meet this standard. We argue for expanding concepts of presumptive benefit. Newborn screening provides access to early intervention programs that are shown to positively influence child development and support families. Consumers want information about their children's health and their own reproductive risk, and they have a broader view than policymakers of what constitutes a treatable disorder. Newborn screening provides other societal benefits that, in the absence of data showing harm and with appropriate attention to ethical and legal issues, warrant consideration of an expansion of targets for newborn screening.

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