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Newborn Screening: For Researchers and Health Care Providers

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  • NICHD Resources
  • National Newborn Screening and Genetics Resource Center External Web Site Policy provides an up-to-date status report on newborn screening in the United States. The Center also maintains a page of resources for professionals External Web Site Policy. Among them is a fact sheet from the American College of Medical Genetics and Genomics on actions a health professional should take in following an infant who has tested positive, and an assortment of recent research publications on newborn screening. Other categories include general resources, newborn screening–specific links, and links to sites on genetics and birth defects.
  • Health Resources and Human Services supports the Secretary’s Advisory Committee on Heritable Disorders and Baby’s First Test External Web Site Policy.
    • The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children 2012 Annual Report to Congress (PDF - 642 KB) offers an invaluable array of information about newborn screening.
    • Baby’s First Test for health professionals External Web Site Policy includes information and links to other resources broken down for prenatal providers and pediatric providers, as well as information on the storage and usage of dried blood spots.
  • Newborn Screening Quality Assurance Program is operated by the CDC Newborn Screening and Molecular Biology Branch, Division of Laboratory Sciences. This is a voluntary, non-regulatory program to maintain and enhance the quality of newborn test results at state public health laboratories. The program publishes quarterly reports to allow laboratories to benchmark practices against their peers.
  • Association of Public Health Laboratories External Web Site Policy collaborates with CDC to assure the proficiency and quality of newborn screening laboratories.
  • The Center for Translational Therapeutics (part of the National Center for Advancing Translational Sciences) administers a program called Therapeutics for Rare and Neglected Diseases. The program’s main focus is to encourage and speed the discovery and development of drugs, especially therapeutics for rare diseases.
  • The American College of Medical Genetics publication Newborn Screening: Toward a Uniform Screening Panel and System contains a full description of the process by which the conditions contained in the RUSP were selected and a set of procedures developed for adding new conditions.
  • The March of Dimes External Web Site Policy maintains a wide range ofinformation about newborn screening, including a description of some of the conditions for which there is screening, a list of the 29 original core RUSP conditions broken down by type, and a description of how the testing is done.

Please note: Links to organizations and information included on this page do not indicate endorsement from the NICHD, NIH, or HHS.

Last Updated Date: 06/25/2013
Last Reviewed Date: 04/12/2013
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