Newborn Genetic Screening

Screening of newborns for a variety of genetic and metabolic disorders is required by almost every state in the United States. Depending on the outcome, genetic counseling for parents may be necessary. The U.S. Department of Health and Human Services is in the process of issuing federal guidelines for newborn screening programs. The Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns is expected to make a recommendation in early 2005 that all states screen for 29 disorders. For now, every state requires different newborn screening tests to be performed. In most states, the responsibility for determining which disorders to be screened has been given to the State Health Department. Some state statutes also allow for exemptions based on religious convictions or other reasons. Regarding the particular disorders for which your state requires screening, please see: National Newborn Screening and Genetics Resource Center. For the screening required by states in which Ascension Health has facilities, please see: Newborn Screening Programs in States with Ascension Health ministries. Because state regulations are revised from time to time, you will want to confirm the identified disorders to be screened for in your state with your state's Health Department. A link to each state has been provided for you. For definitions of the identified disorders for which states require screening, see: Newborn Screening Disorders Defined by Group.

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