Publications
Detailed Information
Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report
Cited 51 time in
Web of Science
Cited 62 time in Scopus
- Authors
- Issue Date
- 2005-03-08
- Publisher
- Elsevier Scientific Pub. Co.
- Citation
- Clin Chim Acta. 2005 Apr;354(1-2):167-80.
- Keywords
- Acidosis/urine ; Adolescent ; Amino Acids/metabolism ; Blood Specimen Collection/methods ; Child ; Child, Preschool ; Cohort Studies ; Fatty Acids/metabolism ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Korea/epidemiology ; Mass Screening/*methods ; Mass Spectrometry/methods ; Metabolism, Inborn Errors/blood/*diagnosis/epidemiology ; Neonatal Screening/*methods ; Risk Factors
- Abstract
- BACKGROUND: Mass screening using tandem mass spectrometry(MS/MS) was initiated to determine if the incidence of metabolic disorder is sufficiently high to meet the criteria for newborn screening, and whether or not early medical intervention might be beneficial to the patients. METHODS: Newborns and children in a high-risk group were screened using MS/MS from April 2001 to March 2004. Blood spots of newborns were collected between 48 and 72 h after birth. The dried blood spots was extracted with 150 microl of methanol, and analyzed by MS/MS. RESULTS: From April 2001 to March 2004, 79,179 newborns were screened for organic, amino and fatty acid metabolism disorders, which account for approximately 5.4% of annual births in South Korea. Twenty-eight newborns were diagnosed with one of the metabolic disorders and the collective estimated prevalence amounted to 1 in 2800 with a sensitivity of 97.67%, a specificity of 99.28%, a recall rate of 0.05%, and a positive predictive value of 6.38%. 6795 infants/children at high risk were screened and 20 were confirmed to have metabolic disorders. CONCLUSION: The collective total prevalence of 1:2800 in newborns indicates an underestimation of the incidence of metabolic disorders prior to implementing MS/MS screening in South Korea.
- ISSN
- 0009-8981 (Print)
- Language
- English
- URI
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15748614
https://hdl.handle.net/10371/15574
- Files in This Item:
- There are no files associated with this item.
Item View & Download Count
Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.