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.
• Newborn Screening for Inherited Disorders of Metabolism

 Health Resources

• American Academy of Pediatrics - Provides both professional and parent resources concerning the health of children.
• Health Information for You - U.S. National Library of Medicine.
• Healthfinder.gov - Health information from the Office of Disease Prevention and Health Promotion.
• National Organization for Rare Disorders - Database for rare diseases and support for patients and their families with these diseases. 
• Newborn Hearing Screening and Intervention Program - Assures that all newborns are screened for hearing loss within the first 30 days of life, are diagnosed within three months, and receive prescribed treatment or intervention services within six months of birth.
• Parents of Galactosemic Children - A non-profit, volunteer organization whose mission is to provide information, support, and networking opportunities to families affected by galactosemia.
• St. Christopher's Hospital for Children  
• The Children's Hospital of Philadelphia 
• Children's Hospital of Pittsburgh of UPMC
• Geisinger Medical Center, Danville
• Lehigh Valley Hospital and Health Network
• Penn State Health Milton S. Hershey Medical Center

 

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