Genetic Alliance believes that newborns should be screened for specific genetic conditions. Currently, every state screens newborns for a broad range of genetic disorders. Most of the birth defects have no immediate visible effects on an infant but, unless detected and treated early, they can have negative effects on physical and mental development. Presently all U.S. states screen newborns for phenylketonuria (PKU), a disorder where the infant cannot process a part of protein found in nearly all foods called phenylalanine. Without treatment, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation. When PKU is detected early, mental retardation can be prevented. Along with PKU, all states screen newborns for hypothyroidism, and most screen for galactosemia.

For state-specific information, check the National Newborn Screening and Genetics Resource Center.

Related Federal Legislation

• Newborn Screening Saves Lives Act [H.R. 1634, S. 634]
• Newborn Screening Saves Lives Act [H.R. 3825, S. 1858]
• Screening for Health of Infants and Newborns Act [H.R. 2889, S. 1712]

Related Links

• National Conference of State Legislatures’ State Newborn Screening Policy
• New York Times article: Panel to Advise Tests on Babies for 29 Diseases (February 21, 2005)
• March Of Dimes Newborn Screening Information Page
• Sharon Terry’s Public Testimony at the September 2004 meeting of the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

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