PMID- 16601872
OWN - NLM
STAT- MEDLINE
DCOM- 20061016
LR  - 20220330
IS  - 0141-8955 (Print)
IS  - 0141-8955 (Linking)
VI  - 29
IP  - 1
DP  - 2006 Feb
TI  - The tandem mass spectrometry newborn screening experience in North Carolina: 
      1997-2005.
PG  - 76-85
AB  - 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 1:4,300. 
      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.
FAU - Frazier, D M
AU  - Frazier DM
AD  - Division of Genetics and Metabolism, Department of Pediatrics, University of 
      North Carolina, Chapel Hill, 27599, USA. dfrazier@med.unc.edu
FAU - Millington, D S
AU  - Millington DS
FAU - McCandless, S E
AU  - McCandless SE
FAU - Koeberl, D D
AU  - Koeberl DD
FAU - Weavil, S D
AU  - Weavil SD
FAU - Chaing, S H
AU  - Chaing SH
FAU - Muenzer, J
AU  - Muenzer J
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Inherit Metab Dis
JT  - Journal of inherited metabolic disease
JID - 7910918
RN  - 0 (Fatty Acids)
RN  - 47E5O17Y3R (Phenylalanine)
SB  - IM
MH  - Blood Specimen Collection/methods
MH  - False Negative Reactions
MH  - Fatty Acids/metabolism
MH  - Female
MH  - Follow-Up Studies
MH  - Humans
MH  - Incidence
MH  - Infant, Newborn
MH  - Male
MH  - Metabolism, Inborn Errors/*diagnosis/*epidemiology
MH  - Neonatal Screening/*methods/*standards/trends
MH  - North Carolina
MH  - Phenylalanine/metabolism
MH  - Pilot Projects
MH  - Spectrometry, Mass, Electrospray Ionization/*methods/*standards/trends
EDAT- 2006/04/08 09:00
MHDA- 2006/10/17 09:00
CRDT- 2006/04/08 09:00
PHST- 2005/09/06 00:00 [received]
PHST- 2006/01/03 00:00 [accepted]
PHST- 2006/04/08 09:00 [pubmed]
PHST- 2006/10/17 09:00 [medline]
PHST- 2006/04/08 09:00 [entrez]
AID - 10.1007/s10545-006-0228-9 [doi]
PST - ppublish
SO  - J Inherit Metab Dis. 2006 Feb;29(1):76-85. doi: 10.1007/s10545-006-0228-9.