- NICHD Resources
- The Newborn and Population Screening and Diagnosis program of the Intellectual and Developmental Disabilities Branch (IDDB) is responsible for the Hunter Kelly Newborn Screening Research Program, which focuses on developing methods to identify additional conditions appropriate for screening and on developing and testing new interventions to improve outcomes in disorders that can be identified through screening.
- The Newborn Screening Translational Research Network, established and funded by the IDDB, offers a wealth of resources and information for researchers.
- The NICHD ;Section on Molecular Dysmorphology is conducting studies related to newborn screening for Niemann-Pick type C, a childhood neurodegenerative disorder that results in ataxia and dementia.
- The NICHD Unit on Human Copper Metabolism studies human disorders of copper transport, such as Menkes disease and occipital horn syndrome, and newborn screening and treatment for these disorders.
- National Newborn Screening and Genetics Resource Center provides an up-to-date status report on newborn screening in the United States. 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 Services Administration supports the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) and
Baby's First Test .
- 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 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 Centers for Disease Control and Prevention (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 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 Recommended Uniform Screening Panel (RUSP) were selected and a set of procedures developed for adding new conditions.
Please note: Links to organizations and information included on this page do not indicate endorsement from the NICHD, NIH, or HHS.