Newborn Screening: For Researchers and Health Care Providers

• The Newborn Screening Translational Research Network, established and funded by the NICHD, offers a wealth of resources and information for researchers.
• The NICHD Brain and Tissue Bank for Developmental Disorders, which contracts with the NICHD, is located at the University of Maryland School of Medicine, Department of Pediatrics, in Baltimore, Maryland.
• The NICHD Section on Molecular Dysmorphology is conducting studies related to screening for Niemann-Pick type C, a childhood neurodegenerative disorder that results in ataxia and dementia. These studies aim to identify (i) a blood-based diagnostic/screening test, (ii) biomarkers that can be used as tools to facilitate development and implementation of therapeutic trials, and (iii) clinical symptoms/signs that may be used as efficacy outcome measures in a therapeutic trial.
• The NICHD Unit on Human Copper Metabolism studies human disorders of copper transport, such as Menkes disease and occipital horn syndrome. In addition to having defined the molecular basis for occipital horn syndrome, the unit’s work focuses on the development of rapid, reliable techniques for the early diagnosis and testing of novel therapeutic approaches using animal models.
• Established by Congress in 1963 and funded by the NICHD, the Intellectual and Developmental Disabilities Research Centers contribute to the development and implementation of evidence-based practices by evaluating the effectiveness of biological, biochemical, and behavioral interventions; developing assistive technologies; and advancing prenatal diagnosis and newborn screening.
• An up-to-date status report on newborn screening in the United States is maintained by the National Newborn Screening and Genetics Resource Center. The Center also maintains a page of resources for professionals. 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.
• The Health Resources and Human Services supports the the Secretary’s Advisory Committee on Heritable Disorders and Baby’s First Test.
• The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children 2011 Annual Report to Congress (PDF - 871 KB) offers an invaluable array of information about newborn screening.
• Baby’s First Test for health professionals 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.
• CDC’s Newborn Screening and Molecular Biology Branch, Division of Laboratory Sciences, operates the Newborn Screening Quality Assurance Program. 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.
• The Association of Public Health Laboratories collaborates with CDC to assure the proficiency and quality of newborn screening laboratories.
• The Center for Translational Therapeutics (now part of the newly formed 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 Rare Diseases Clinical Research Network includes the Rare Diseases Clinical Research Consortia (RDCRCs) and a Data Management and Coordinating Center. The Network was established by NIH in 2009 in response to the Rare Diseases Act of 2002. The NICHD supports three RDCRCs: the Angelman, Rett, & Prader-Willi Syndromes Consortium; Sterol & Isoprenoid Research (STAIR) Consortium; and the Urea Cycle Disorders Consortium. Some of this work includes efforts to develop newborn screening technologies for these rare diseases.
• The March of Dimes maintains a wide range of information 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.