{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T04:09:39Z","timestamp":1788926979763,"version":"build-2803163510"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,2,1]],"date-time":"2006-02-01T00:00:00Z","timestamp":1138752000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>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\u2010up 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\u2010house. 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\u2010nine infants were identified with fatty acid oxidation disorders, 58 with organic acidaemias and 62 with aminoacidopathies. Medium\u2010chain acyl\u2010CoA dehydrogenase deficiency, 3\u2010methylcrotonyl\u2010CoA 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\u2010tier system, categorizing results as either \u2018borderline\u2019 or \u2018diagnostic\u2019 elevated, for both the cutoffs and follow\u2010up 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\u2010up protocol integrating the public health laboratory and the academic metabolic centres.<\/jats:p>","DOI":"10.1007\/s10545-006-0228-9","type":"journal-article","created":{"date-parts":[[2006,4,6]],"date-time":"2006-04-06T21:48:10Z","timestamp":1144360090000},"page":"76-85","source":"Crossref","is-referenced-by-count":195,"title":["The tandem mass spectrometry newborn screening experience in North Carolina: 1997\u20132005"],"prefix":"10.1002","volume":"29","author":[{"given":"D. M.","family":"Frazier","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of North Carolina Chapel Hill NC 27599 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. S.","family":"Millington","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Duke University Medical Centre Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. E.","family":"McCandless","sequence":"additional","affiliation":[{"name":"Departments of Genetics and Pediatrics Case Western Reserve University Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. D.","family":"Koeberl","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Duke University Medical Centre Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. D.","family":"Weavil","sequence":"additional","affiliation":[{"name":"Newborn Screening Laboratory North Carolina State Public Health Laboratories Raleigh North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. H.","family":"Chaing","sequence":"additional","affiliation":[{"name":"Newborn Screening Laboratory North Carolina State Public Health Laboratories Raleigh North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Muenzer","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of North Carolina Chapel Hill NC 27599 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.022178"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/11.5.541"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1246-3"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1024015227863"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.PDR.0000074972.36356.89"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.154.7.714"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1511\/2002.13.752"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799385"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.2004.04343.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.111.6.1399"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.107.5.1184"},{"key":"e_1_2_1_13_1","first-page":"958","article-title":"Medium\u2010chain acyl\u2010CpA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood","volume":"52","author":"Van Hove JL","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa025225"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/47.11.1945"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0228-9","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0228-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:26:42Z","timestamp":1694755602000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0228-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,2]]}},"alternative-id":["10.1007\/s10545-006-0228-9"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0228-9","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2]]}}}