caa a22 4500 467932530 CHVBK 20180406152947.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0228-9 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0228-9 The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005 [Elektronische Daten] [D. Frazier, D. Millington, S. McCandless, D. Koeberl, S. Weavil, S. Chaing, J. Muenzer] Summary: North Carolina (NC) was the first US state to initiate universal tandem mass spectrometry (MS/MS) newborn screening. This began as a statewide pilot project in 1997 to determine the incidence and feasibility of screening for fatty acid oxidation, organic acid and selected amino acid disorders. The MS/MS analyses were done by a commercial laboratory and all follow-up and confirmatory testing was performed through the NC Newborn Screening (NBS) Program. In April 1999, the NC NBS Laboratory began the MS/MS analyses in-house. Between 28 July 1997 and 28 July 2005, 944 078 infants were screened and 219 diagnoses were confirmed on newborns with elevated screening results, for an overall incidence of 1:4300. Ninety-nine infants were identified with fatty acid oxidation disorders, 58 with organic acidaemias and 62 with aminoacidopathies. Medium-chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency and disorders of phenylalanine metabolism were the most common disorders detected. Identification of affected infants has allowed retrospective testing of other family members, resulting in an additional 16 diagnoses. Seven neonates died from complications of their metabolic disorders/prematurity despite timely MS/MS screening. In addition, there were six infants who were not identified by elevated NBS results but who presented with symptoms later in infancy. The NC MS/MS NBS Program uses a two-tier system, categorizing results as either ‘borderline' or ‘diagnostic' elevated, for both the cutoffs and follow-up protocol. Infants with an initial borderline result had only a repeat screen. Infants with a diagnostic or two borderline results were referred for confirmatory testing. The positive predictive value of the NC MS/MS NBS for those infants requiring confirmatory testing was 53% for 2003 and 2004. The success of the NC MS/MS NBS Program in identifying infants with metabolic disorders was dependent on a comprehensive follow-up protocol integrating the public health laboratory and the academic metabolic centres. SSIEM and Springer, 2006 Frazier D. Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina, 27599, Chapel Hill, NC, USA aut Millington D. Department of Pediatrics, Duke University Medical Centre, Durham, North Carolina, USA aut McCandless S. Departments of Genetics and Pediatrics, Case Western Reserve University, Cleveland, Ohio, USA aut Koeberl D. Department of Pediatrics, Duke University Medical Centre, Durham, North Carolina, USA aut Weavil S. Newborn Screening Laboratory, North Carolina State Public Health Laboratories, Raleigh, North Carolina, USA aut Chaing S. Newborn Screening Laboratory, North Carolina State Public Health Laboratories, Raleigh, North Carolina, USA aut Muenzer J. Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina, 27599, Chapel Hill, NC, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 76-85 0141-8955 29:1<76 2006 29 10545 https://doi.org/10.1007/s10545-006-0228-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0228-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Frazier D. Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina, 27599, Chapel Hill, NC, USA aut NATIONALLICENCE 700 1- Millington D. Department of Pediatrics, Duke University Medical Centre, Durham, North Carolina, USA aut NATIONALLICENCE 700 1- McCandless S. Departments of Genetics and Pediatrics, Case Western Reserve University, Cleveland, Ohio, USA aut NATIONALLICENCE 700 1- Koeberl D. Department of Pediatrics, Duke University Medical Centre, Durham, North Carolina, USA aut NATIONALLICENCE 700 1- Weavil S. Newborn Screening Laboratory, North Carolina State Public Health Laboratories, Raleigh, North Carolina, USA aut NATIONALLICENCE 700 1- Chaing S. Newborn Screening Laboratory, North Carolina State Public Health Laboratories, Raleigh, North Carolina, USA aut NATIONALLICENCE 700 1- Muenzer J. Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina, 27599, Chapel Hill, NC, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 76-85 0141-8955 29:1<76 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer