Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening.
作者： Zhiguo Wang , Xuefan Gu , Jun Ye , Lianshu Han , Wenjuan Qiu
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摘要: This study was to investigate the current status of neonatal screening in China, further clarify incidences hyperphenylalaninemia (HPA) and congenital hypothyroidism (CH). From 2000 2007, a total 17,961,826 newborns had been screened for HPA 1527 cases were detected, giving prevalence 1:11,763. At same time, 18,284,745 also tested CH, with 8918 being detected (1:2050). It is remarkable that mean number per year increased 5 times between 2007. In Shanghai, 116,000 using tandem mass spectrometry 6 different detected. The overall an inborn errors metabolism identified 1 5800 healthy newborns, most common. Neonatal developed rapidly China recent years, pilot has started. biggest challenge still increase coverage entire country, especially mid-western area.
annals.edu.sg参考文章(11)
Zhi-guo Wang, Xue-fan Gu, Screening for phenylketonuria and congenital hypothyroidism in 5.8 million neonates in China Chinese Journal of Preventive Medicine. ,vol. 38, pp. 99- 102 ,(2004) , 10.3760/J:ISSN:0253-9624.2004.02.009
N. Blau, I. Barnes, J. L. Dhondt, International database of tetrahydrobiopterin deficiencies Journal of Inherited Metabolic Disease. ,vol. 19, pp. 8- 14 ,(1996) , 10.1007/BF01799342
L. S. Han, J. Ye, W. J. Qiu, X. L. Gao, Y. Wang, X. F. Gu, Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four-year report Journal of Inherited Metabolic Disease. ,vol. 30, pp. 507- 514 ,(2007) , 10.1007/S10545-007-0543-9
D. M. Frazier, D. S. Millington, S. E. McCandless, D. D. Koeberl, S. D. Weavil, S. H. Chaing, J. Muenzer, The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005 Journal of Inherited Metabolic Disease. ,vol. 29, pp. 76- 85 ,(2006) , 10.1007/S10545-006-0228-9
Piero Rinaldo, Silvia Tortorelli, Dietrich Matern, Recent developments and new applications of tandem mass spectrometry in newborn screening. Current Opinion in Pediatrics. ,vol. 16, pp. 427- 433 ,(2004) , 10.1097/01.MOP.0000133635.79661.84
Georg F. Hoffmann, R�diger von Kries, Daniela Klose, Martin Lindner, Andreas Schulze, Ania C. Muntau, Wulf R�schinger, Bernhard Liebl, Ertan Mayatepek, Adelbert A. Roscher, Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany European Journal of Pediatrics. ,vol. 163, pp. 76- 80 ,(2004) , 10.1007/S00431-003-1246-3
Donald H. Chace, Theodore A. Kalas, A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing Clinical Biochemistry. ,vol. 38, pp. 296- 309 ,(2005) , 10.1016/J.CLINBIOCHEM.2005.01.017
A. Schulze, M. Lindner, D. Kohlmuller, K. Olgemoller, E. Mayatepek, G. F. Hoffmann, Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications Pediatrics. ,vol. 111, pp. 1399- 1406 ,(2003) , 10.1542/PEDS.111.6.1399
Leandra Jäggi, Marcel R. Zurflüh, Agnes Schuler, Alberto Ponzone, Francesco Porta, Laura Fiori, Marcello Giovannini, René Santer, Georg F. Hoffmann, Hans Ibel, Udo Wendel, Diana Ballhausen, Matthias R. Baumgartner, Nenad Blau, Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency Molecular Genetics and Metabolism. ,vol. 93, pp. 295- 305 ,(2008) , 10.1016/J.YMGME.2007.10.004
Jun Ye, Xuefan Gu, Xiaoqing Liu, Ruiguan Chen, Yafen Zhang, Xieqin Ma, Xiaodong Huang, Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. Chinese Medical Journal. ,vol. 115, pp. 217- 221 ,(2002)