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

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Yoon, Hye-Ran; Lee, Kyung Ryul; Kang, Seungwoo; Lee, Dong Hwan; Yoo, Han-Wook; Min, Won-Ki; Cho, Dong Hee; Shin, Son Moon; Kim, Jongwon; Song, Junghan; Yoon, Ho Joo; Seo, Sonsang; Hahn, Si Houn
Issue Date
Elsevier Scientific Pub. Co.
Clin Chim Acta. 2005 Apr;354(1-2):167-80.
Acidosis/urineAdolescentAmino Acids/metabolismBlood Specimen Collection/methodsChildChild, PreschoolCohort StudiesFatty Acids/metabolismFollow-Up StudiesHumansInfantInfant, NewbornKorea/epidemiologyMass Screening/*methodsMass Spectrometry/methodsMetabolism, Inborn Errors/blood/*diagnosis/epidemiologyNeonatal Screening/*methodsRisk Factors
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.
0009-8981 (Print)
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College of Medicine/School of Medicine (의과대학/대학원)Laboratory Medicine (검사의학전공)Journal Papers (저널논문_검사의학전공)
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