Seven-year experience with inherited metabolic disorders screening by tandem mass spectrometry
Journal of Genetic Medicine
;
: 21-25, 2008.
Article
in Korean
| WPRIM
| ID: wpr-62805
ABSTRACT
PURPOSE:
In recent years, many countries have adopted newborn screening programs that use tandem mass spectrometry (MS/MS) to screen and the number of diseases screened has also increased. We began screening for inherited metabolic disorders using MS/MS in April, 2001. Our goal was to determine the overall prevalence of metabolic disorders and to assess the effectiveness of newborn screening by MS/MS in Korea.METHODS:
From April, 2001 to December, 2007, we screened newborns and high risk groups using MS/MS. Acylcarnitines and amino acids were extracted and butylated and were introduced into the inlet of MS/MS. Confirmatory testing including a repeat newborn screening, and urine organic acid and plasma amino acid analysis were performed on a case-by-case basis.RESULTS:
The total number of screened subjects 284,933 which comprised 251,799 neonates and 33,134 high risk subjects. The recall rate was 0.4% (1158 tests) and true positive cases were 117 (0.04%). Confirmed metabolic disorders (newborn/high risk group) were as follows; 78 (25/53) amino acid disorders, 27 (16/11) organic acid disorders, and 12 (5/7) fatty acid oxidation disorders. The estimated prevalence of inherited metabolic diseases in newborns was 15,000 and that in the total group was 12,000.CONCLUSION:
Newborn screening by MS/MS improved the detection of many inherited metabolic disorders. We therefore propose that all newborns be screened by a MS/MS national program and followed-up using a systemic organization strategy.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Plasma
/
Mass Screening
/
Prevalence
/
Bays
/
Tandem Mass Spectrometry
/
Amino Acids
/
Metabolic Diseases
Type of study:
Diagnostic study
/
Prevalence study
/
Screening study
Limits:
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Journal of Genetic Medicine
Year:
2008
Type:
Article
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