Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.

摘要: Abstract Background Mass screening using tandem mass spectrometry(MS/MS) was initiated to determine if the incidence of metabolic disorder is sufficiently high meet criteria for newborn screening, and whether or not early medical intervention might be beneficial patients. Methods Newborns children in a high-risk group were screened MS/MS from April 2001 March 2004. Blood spots newborns collected between 48 72 h after birth. The dried blood extracted with 150 μl methanol, analyzed by MS/MS. Results From 2004, 79,179 organic, amino fatty acid metabolism disorders, which account ≈5.4% annual births South Korea. Twenty-eight diagnosed one disorders collective estimated prevalence amounted 1 2800 sensitivity 97.67%, specificity 99.28%, recall rate 0.05%, positive predictive value 6.38%. 6795 infants/children at risk 20 confirmed have disorders. Conclusion total 1:2800 indicates an underestimation prior implementing