Newborn screening was developed more than 50 years ago as a way to prevent developmental disability associated with untreated phenylketonuria through early detection and treatment.1 Since then, newborn screening has expanded to include dozens of conditions that, if not identified in early infancy, are associated with significant morbidity and mortality.2 In the United States, each state is responsible for determining which conditions should be included in screening. Adding a condition to a state newborn screening panel is challenging. Not only does the newborn screening program have to implement the screening test, but systems must be put into place to enable diagnostic confirmation, prompt treatment, and public health monitoring. The resources needed to expand newborn screening must be weighed against the expected benefit, and because virtually all newborns are screened, the potential harms (eg, false positives, overdiagnosis) must be carefully considered.
Kemper AR, Lam WKK, Bocchini JA. The Success of State Newborn Screening Policies for Critical Congenital Heart Disease. JAMA. 2017;318(21):2087–2088. doi:10.1001/jama.2017.17626
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