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2008年-2009年合肥地区新生儿疾病筛查结果分析
引用本文:胡海利,傅苏林,邵子瑜,徐军杨. 2008年-2009年合肥地区新生儿疾病筛查结果分析[J]. 中国优生与遗传杂志, 2011, 0(9): 88-89
作者姓名:胡海利  傅苏林  邵子瑜  徐军杨
作者单位:安徽省合肥市妇幼保健所新生儿疾病筛查中心;
摘    要:目的分析合肥市2008年-2009年新生儿疾病筛查开展情况,了解新生儿苯丙酮尿症(PKU)、先天性甲状腺功能低下症(CH)发病率。方法回顾性分析合肥市新生儿疾病筛查中心PKU、CH的筛查及召回结果。结果 2008年-2009年,合肥市新筛中心共筛查新生儿70 683例,总体筛查率为77.68%,检出PKU和CH分别为8例和35例,PKU检出率为1/8835,CH检出率为1/2020。结论合肥市PKU和CH检出率与相关文献报道相近,新生儿疾病筛查能够早期识别PKU和CH患儿。

关 键 词:新生儿疾病筛查  苯丙酮尿症  先天性甲状腺功能低下  分析

Analysis of the results of neonatal screening in hefei from 2008 to 2009.
HU Hai-li,FU Su-lin,SHAO Zi-yu,et al.. Analysis of the results of neonatal screening in hefei from 2008 to 2009.[J]. Chinese Journal of Birth Health & Heredity, 2011, 0(9): 88-89
Authors:HU Hai-li  FU Su-lin  SHAO Zi-yu  et al.
Affiliation:HU Hai-li,FU Su-lin,SHAO Zi-yu,et al.(The Department of Neonatal Screening,Maternal and Child Health Institution of Hefei,Hefei 230001,Anhui,China)
Abstract:Objective: The aim of this study was to analysis implementation of neonatal screening and find out neonatal phenylketonuria(PKU),congenital hypothyroidism(CH) incidence in Hefei.Methods: To retrospective analysis the results of neonatal screening and recalling.Results: From 2008 to 2009,the neonatal screening center of Hefei screened a total of 70 683 cases of newborn screening,the overall screening rate was 77.68%,PKU and CH were detected in 8 cases and 35 cases,PKU incidence was 1/8835,CH incidence was 1/...
Keywords:Neonatal Screening  Congenital Hypothyroidism  Phenylketonuria  Analysis  
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