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Newborn Screening and Genetics Resources

Below you will find a list and description of state and national informational resources on newborn screening and genetics. 

Genetic Resources

  • Cares Foundation -  Congenital Adrenal Hyperplasia (CAH) information and support.
  • Cystic Fibrosis Foundation - A non-profit organization that provides information about cystic fibrosis and finances cystic fibrosis research that aims to improve the quality of life for people with the disease. 
  • American Heart Association - provides information and resources for the CHD community. 
  • Genetic Alliance - Provides assistance to advocacy organizations for patients with genetic conditions. 
  • Genetics Reference - Provides consumer-friendly information about the effects of genetic variations on human health. 
  • March of Dimes - Non-Profit organization dedicated to the prevention of birth defects, premature birth and infant mortality. 
  • National Newborn Screening & Global Resource Center - Information and resources provided by The Maternal Child Health Bureau and The University of Texas Department of Pediatrics concerning newborn screening and genetics. 
  • National Urea Cycle Disorders Foundation - A non-profit organization that provides information, education and support to families and friends of persons affected by urea cycle disorders and the professionals who treat them.
  • Organic Acidemia Association - Provides awareness, information, and support for families whose children are afflicted with metabolic disorders. 
  • Sickle Cell Disease Association of America - Educates the public about sickle cell disease, identification of carriers of the disease, promotes the interests of sickle cell patients, and makes recommendations for screening, treatment, and genetic counseling programs.
  • The FOD (Fatty Oxidation Disorders) Family Support Group - Provides worldwide resource for families, friends, clinicians, researchers and others who would like to support, educate and provide a forum for the sharing of ideas and concerns for those whose lives have been touched by a Fatty Oxidation Disorder.
  • The Magic Foundation - Provides support and education for families of children affected by Congenital Hypothyroidism. 
  • Children's National Health System - Congenital Heart Disease information and support.

 Newborn Screening

  • American College of Medical Genetics - ACT newborn screening fact sheets for newborn screening disorders.
  • Baby's First Test - Clearinghouse for newborn screening information that provides current educational and family resources about newborn screening at the local, state, and national levels.
  • PerkinElmer Genetics - Laboratory providing newborn screening for the Pennsylvania Department of Health.
  • Save Babies Through Screening Foundation - Organization whose mission is to improve the lives of babies by preventing disabilities and early death by disorders detected through newborn screening.
  • Save Babies Video - Watch to learn why newborn screening is vital for your family and the country. Hear compelling stories of families who have been impacted by newborn screening.  
  • Secretary's Advisory Committee on Heritable Disorders in Newborns and Children - 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.
  • Severe Combined Immunodeficiency - Information and resources about  Severe Combined Immunodeficiency.
  • University of Massachusetts Newborn Screening - A public health screening program for newborns, providing service for five New England states including Pennsylvania.
  • NewSteps360 - Provides national data, technical assistance and training to newborn screening programs and assists states with quality improvement initiatives.

 Health Resources