{"response":{"docs":[{"id":"dlg_ggpd_y-ga-bh800-pp8-bs1-bn43-b2008-belec-p-btext","title":"Georgia data summary. Newborn metabolic \u0026 endocrine screening","collection_id":"dlg_ggpd","collection_title":"Georgia Government Publications","dcterms_contributor":["Georgia. Division of Public Health."],"dcterms_spatial":["United States, Georgia, 32.75042, -83.50018"],"dcterms_creator":["Georgia. Division of Public Health"],"dc_date":["2008"],"dcterms_description":["Title from pdf of caption (GALILEO, viewed Feb. 10, 2010)"],"dc_format":["application/pdf"],"dcterms_identifier":null,"dcterms_language":["eng"],"dcterms_publisher":["Atlanta, GA. : Georgia Department of Human Resources, Division of Public Health"],"dc_relation":null,"dc_right":["http://rightsstatements.org/vocab/InC/1.0/"],"dcterms_is_part_of":null,"dcterms_subject":["Metabolic disorders in children--Diagnosis--Georgia","Endocrine glands--Diseases--Diagnosis","Newborn infants--Medical examinations--Georgia","Metabolism, Inborn errors of--Diagnosis--Georgia"],"dcterms_title":["Georgia data summary. Newborn metabolic \u0026 endocrine screening","Newborn metabolic \u0026 endocrine screening","Newborn metabolic and endocrine screening"],"dcterms_type":["Text"],"dcterms_provenance":["University of Georgia. Map and Government Information Library"],"edm_is_shown_by":["https://dlg.galileo.usg.edu/do:dlg_ggpd_y-ga-bh800-pp8-bs1-bn43-b2008-belec-p-btext"],"edm_is_shown_at":["https://dlg.galileo.usg.edu/id:dlg_ggpd_y-ga-bh800-pp8-bs1-bn43-b2008-belec-p-btext"],"dcterms_temporal":null,"dcterms_rights_holder":null,"dcterms_bibliographic_citation":null,"dlg_local_right":null,"dcterms_medium":["state government records"],"dcterms_extent":null,"dlg_subject_personal":null,"iiif_manifest_url_ss":null,"dcterms_subject_fast":null,"fulltext":"2008 Georgia Data Summary: \nNewborn Metabolic \u0026 Endocrine Screening \n \nIn Georgia in 2007, 144 cases of metabolic or endocrine disorders were diagnosed through the screening program, or almost 1 case per 1,000 live births. \n \nWHAT IS NEWBORN METABOLIC AND ENDOCRINE SCREENING? Newborn Metabolic and Endocrine Screening (NBS) is designed to identify and provide early treatment for select inherited disorders that otherwise would cause significant morbidity or death. The five program components are: \n Screening: universal testing of all newborns though a heel stick blood specimen sent to the Georgia Public Health Laboratory. \n Follow-up: rapid identification and referral of all screen-positive newborns. \n Medical Diagnosis: re-screening by a private physician or tertiary treatment center after abnormal test results are found to confirm or rule out abnormal findings. \n Management: rapid implementation and longterm planning of therapy. \n Evaluation: validation of testing procedures and efficiency of follow up and intervention. Furthermore, we consider adding other tests to the system as indicated by appropriate research and scientific evidence. \nTESTS PERFORMED \nGeorgia's newborn screening program began in 1968 with routine screening for phenylketonuria in all newborn infants. Now, newborns in Georgia are tested for early signs of 28 conditions such as*: \n Phenylketonuria (PKU) People with PKU have enzymes that cannot properly breakdown the amino acid phenylalanine, causing its buildup in the body. Untreated PKU leads to mental retardation, but this can be prevented through early detection and lifelong diet modification.1 NBS identified six cases of PKU at birth in 2007. These infants began treatment 11 days after birth, on average. 2 \n \n Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCADD) People with MCADD cannot adequately break down fatty acids into ketones that are used for energy. The partially broken down fatty acids are toxic to cells. Fatty acid breakdown is needed for energy during times of fasting, such as in between meals. Without this breakdown, hypoglycemia (low blood sugar) occurs. Without treatment, symptoms range from sleepiness (at first) to mental retardation (after repeated metabolic crises). With continuous treatment, consisting of changes in food consumption based on expert clinical advice, patients grow and develop normally.1 NBS identified 12 cases of MCADD at birth in 2007. These infants began treatment about 8 days after birth, on average.2 \n Cystic Fibrosis Cystic fibrosis is an inherited disorder of the mucus glands that commonly affects the respiratory and digestive systems. The thick mucus causes lung problems and blocks enzymes that help digest food. Early identification of cystic fibrosis leads to treatment that may increase life expectancy and quality of life.1 NBS identified 29 cases of cystic fibrosis at birth in 2007. These infants began treatment about 33 days after birth, on average. 2 \n Congenital Hypothyroidism (CH) The thyroid glands of infants with CH have either a complete or partial loss of function. This affects brain development, growth and many metabolic processes. If untreated, outcomes include mental retardation and abnormal growth. Early treatment is critical to normal development.1 NBS identified 72 cases of CH at birth in 2007. These infants began treatment on average about 30 days after birth.2 \nIn general, newborn screening targets individual conditions that are relatively uncommon. However, without screening, early diagnosis, and treatment, these conditions collectively would be an important cause of early death or disability. \nThe process of screening is safe and minimally invasive to the infant. \nThe benefits of early discovery are substantial, can prevent disability, or be life saving. \n \n*Content is NOT a substitute for professional medical advice. \n \nGeorgia Department of Human Resources, Division of Public Health  2 Peachtree Street, NW  Atlanta, GA 30303  (404) 657-2588  ga-genetic-screening@dhr.state.ga.us  http://health.state.ga.us \n \n GEORGIA CASE COUNTS \u0026 RATES \n Over 2,000 cases of classical metabolic or endocrine disease have been identified since the inception of the newborn screening program in 1968. \nCases diagnosed in 2007 included: \n 4 cases of 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) -- 2.7 per 100,000 live births \n 2 cases of Biotinidase Deficiency -- 1.3 per 100,000 live births \n 13 cases of Congenital Adrenal Hyperplasia (CAH) -8.7 per 100,000 live births \n 29 cases of Cystic Fibrosis -- 19.4 per 100,000 live births \n 3 cases of Galactosemia -- 2 per 100,000 live births \n 72 cases of CH -- 48.2 per 100,000 live births \n \nDIAGNOSIS \u0026 FOLLOW-UP TIME \n If an infant has an abnormal initial screen, further testing is requested in most cases. \n Early notification of abnormal tests is important. Followup begins quickly, within 24 hours of the abnormal result. \n Treatment urgency varies by diagnosis and the individual case. The percent of children who had timely initiation of treatment varied by diagnosis; improving timeliness of treatment is an important priority. \nCOST IMPACT \n Screening reduces the risk of morbidity and mortality that exists with unidentified cases or delayed diagnosis of children with metabolic and endocrine diseases. Additionally, identifying cases early reduces cost of care and treatment. \n \n 1 case of Maple Syrup Urine Disease (MSUD) -- 0.7 per 100,000 live births \n 12 cases of MCADD -- 8 per 100,000 live births \n 6 cases of PKU -- 4 per 100,000 live births \n 2 cases of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) -- 1.3 per 100,000 live births2 \n \n When the scientific and medical community considered adding CH to the list of screened abnormalities in the 1970's, it was found that for every dollar spent on screening, $8.90 were saved in averted treatment costs and increased productivity.4 \n A review of multiple studies revealed that for every dollar spent screening for PKU, $6.19 were saved in averted treatment and productivity loss.5 \n \nSCREENING TIME \n By Georgia Law, all newborns should be screened between 24 hours and 7 days after birth. To ensure a valid test result, blood specimens for screening should not be taken from newborns before 24 hours of age. \n In 2007, almost 150,000 children were born in Georgia. \n In 2007, 1% (2,407) of screening specimens were taken earlier than 24 hours of age, and almost 4% (6,046) of specimens were taken more than 7 days after birth.3 \n \n As advances in technology provide effective screening tests at affordable costs, our capacity to screen for metabolic and endocrine conditions improves. For example, the development of tandem mass spectrometry has made routine screening possible for MCADD. Screening all newborns, we can identify the few that have this condition and promptly begin effective treatment. Now, the cost of not screening for MCADD, measured in subsequent treatment expenses and years of life lost, is about equal to the cost of screening.6 \n \n In 2007, for all infants screened in Georgia, 83% of infants were screened within the 2 days after birth.3 \nData sources: 1. National Newborn Screening and Genetics Resource Center. 2. Emory University School of Medicine, Division of Medical Genetics. 3. Georgia Public Health Laboratory screening results. 4. P. M. Layde; S. D. Von Allmen; G. P. Oakley, Jr. Congenital hypothyroidism control programs. A cost-benefit analysis. JAMA. 1979;241(21):2290-2292. 5. J Lord, et. al. Secondary analysis of economic data: a review of cost-benefit studies of neonatal screening for phenylketonuria. J. Epidemiol. Community Health 1999;53;179-186. 6. L. N. Venditti, et. al. Newborn Screening by Tandem Mass Spectrometry for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A CostEffectiveness Analysis. Pediatrics 2003;112;1005-1015. \nDate updated: November 2008 Publication number: DPH08.326HW Visit http://health.state.ga.us/programs/nsmscd for more information about newborn metabolic and endocrine screening in Georgia. \n \nGeorgia Department of Human Resources, Division of Public Health  2 Peachtree Street, NW  Atlanta, GA 30303  (404) 657-2588  ga-genetic-screening@dhr.state.ga.us  http://health.state.ga.us \n \n "}],"pages":{"current_page":1,"next_page":null,"prev_page":null,"total_pages":1,"limit_value":10,"offset_value":0,"total_count":1,"first_page?":true,"last_page?":true},"facets":[{"name":"type_facet","items":[{"value":"Text","hits":1}],"options":{"sort":"count","limit":16,"offset":0,"prefix":null}},{"name":"creator_facet","items":[{"value":"Georgia. 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