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탠덤 매스 검사(Tandem Mass Spectrometry)를 이용한 선천성 대사이상 선별검사 10년간의 분석
이보미,이지윤,이정호,김석영,김종원,민영기,손운흥,송정한,우향제,윤혜란,이용화,최교영,최태윤,이동환,Lee, Bomi,Lee, Jiyun,Lee, Jeongho,Kim, Suk Young,Kim, Jong Won,Min, Won-Ki,Song, Woon Heung,Song, Jung Han,Woo, Hang Jae,Yoon, Hye Ran,Lee, Yong 대한유전성대사질환학회 2017 대한유전성대사질환학회지 Vol.17 No.3
Purpose: From the early 1990's, use of Tandem mass spectrometry in neonatal screening test, made early stage detection of disorders that was not detectable by the previous methods of inspection. This research aims to evaluate the frequency of positive results in national neonatal screening test by Tandem mass spectrometry and its usefulness. Methods: A designated organization for inherited metabolic disorder executed neonatal screening test on newborns using Tandem mass spectrometry from January 2006 to December 2015, followed by the investigation of these data by the Planned Population Federation of Korea (PPFK), and this research analyzed those inspected data from the PPFK. Results: Among total childbirth of 4,590,606, from January 2006 to December 2015, 3,445,238 were selected for MS/MS and conduction rate was 75.1%. 261 out of the selected 3,445,238 were confirmed patients and for last decade, detection rate of total metabolic disorder was 1/13,205. In 261 confirmed patients, 120 had an amino acid metabolic disorder and its detection rate was 1/28,710 and 110 had an organic acid metabolic disorder and detection rate was 1/31,320. Also, 31 had a fatty acid metabolic disorder and detection rate was 1/13,205. Conclusion: Inherited metabolic disorder is very rare. Until now, it was difficult to precisely grasp an understanding on the national incidence of inherited metabolic disorder, due to lack of overall data and inconsistent and incomplete long-term result analysis. However, this research attempted to comprehensively approach the domestic incidence, by analyzing previous 10 years of data.