Newborn Screening for Metabolic and Sickle Cell Disorders Program

Contact Information

2 Peachtree Street NW Atlanta, GA 30303 404-657-4143 gdphinfo@dhr.state.ga.us

Mission & Vision

The Georgia Newborn Screening Program is now over two decades old. Effective January 1, 2007, 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 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, 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 five part preventive health care system designed to identify and provide early treatment for the nine selected inherited disorders that otherwise would cause significant morbidity or death. The five components, which show considerable overlap, are:

1. Screening: universal testing of all newborns
2. Follow-up: rapid retrieval and referral of the screen-positive newborn
3. Medical Diagnosis: confirmation of a normal or abnormal screening test result by a private physician or tertiary treatment center
4. Management: rapid implementation and long-term planning of therapy
5. 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.

The program receives advice and recommendations from the Georgia Newborn Screening Advisory Committee.

These guidelines were written to help you better understand Georgia's Newborn Screening Program and to comply with the statute.

Services

• Overview
• Screening
• Disorders
• Diagnosis
• Follow-Up
• Testing and Reporting
• Education

Publications

• Brochures
• Georgia’s Newborn Screening. 
• Pruebas de evaluación del recién nacido de Georgia . 
• Georgia Newborn Screening Manual for Metabolic Diseases and Hemoglobinopathies, 2004 
• Physician Pocket Reference: A guide to the disorders in the Georgia Newborn Screening Program 
• Poster: A Simple Test Could Save Your Baby's Life. 
• Georgia’s Newborn Screening.