Newborn Screening for Metabolic and Sickle Cell Disorders Program
Overview
The Georgia Newborn Screening Program is now over two decades old. Georgia law (OCGA
31-12-6 &
31-12-7) and Rules and Regulations (Chapter 290-5-24) requires that every live born infant have an adequate blood test to screen for 28 disorders. These disorders include: Phenylketonuria, Congenital Hypothyroidism, Maple Syrup Urine Disease, Galactosemia, Tyrosinemia, Homocystinuria, Congenital Adrenal Hyperplasia, Biotinidase Deficiency, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Sickle Cell Disorders (SS, SC, S-beta thalassemia), Isovaleric acidemia, Glutaric acidemia type I, 3-OH 3-CH3 glutaric aciduria (HMG), Multiple carboxylase deficiency, Methylmalonic acidemia, (Cobalamin A and Cobalamin B deficiency) 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC), Propionic acidemia, Beta-ketothiolase deficiency, Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), Long-chain L-3-OH acyl CoA dehydrogenase deficiency (LCHAD), Trifunctional protein deficiency, Carnitine uptake defect, Citrullinemia, Argininosuccinic acidemia, and Cystic Fibrosis.
The Georgia Newborn Screening Program is a six part preventive health care system designed to identify and provide early treatment for the 28 selected inherited disorders that otherwise would cause significant morbidity or death. The components are:
- Education: of parents and health care providers
- Screening: universal testing of all newborns
- Follow-up: rapid retrieval and referral of the screen-positive newborn
- Medical Diagnosis: confirmation of a normal or abnormal screening test result by a private physician or tertiary treatment center
- Management: rapid implementation and long-term planning of therapy
- Evaluation: validation of testing procedures, efficiency of follow-up and intervention, and benefit to the patient, family and society. Include consideration of adding other tests to the system as indicated by appropriate research and scientific evidence.
Additional Information
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