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What is the purpose of newborn screening?

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The intent of newborn screening is to detect potentially fatal or disabling conditions in newborns. Identifying infants with these conditions early on provides a window of opportunity for treatment, often before the infant displays any signs or symptoms of a disease or condition. Such early detection and treatment can have a profound impact on the severity of the condition in the child. The consequences of many of the screened for conditions, if left undiagnosed and untreated, can be dire, often causing irreversible neurological damage; intellectual, developmental, and physical disabilities; and even death.

The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) was chartered in April 2013 and works to reduce morbidity and mortality in newborns and children who have or are at risk for heritable disorders such as sickle cell anemia, cystic fibrosis, and hearing impairment.

The Committee recommends that every newborn screening program include a Recommended Uniform Screening Panel (PDF - 141 KB) that screens for 31 core disorders and 26 secondary disorders; the disorders' selection was based on the Newborn Screening: Towards a Uniform Screening Panel and System (PDF - 975 KB).

The committee advises the Secretary, U.S. Department of Health and Human Services, on the most appropriate application of universal newborn screening tests, technologies, policies, guidelines, and standards. Specifically, the committee provides to the Secretary the following:

  • Advice and recommendations concerning grants and projects authorized under the Heritable Disorders Program administered by the Health Resources and Services Administration;
  • Technical information to develop Heritable Disorders Program policies and priorities that will enhance the ability of the state and local health agencies to provide screening, counseling and health care services for newborns and children who have or are at risk for heritable disorders; and
  • Recommendations, advice, and information to enhance, expand, or improve the ability of the Secretary to reduce mortality and morbidity from heritable disorders in newborns and children.

Baby's First Test External Web Site Policy provides a complete list of conditions included in the newborn screening programs of each state in the United States, with information about each condition.

Last Reviewed: 04/12/2013
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