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。
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 1/2020.Condusion： The rate of PKU and CH of Hefei were similar to it of related literature,neonatal screening could early identify the children with PKU and CH.
出处
《中国优生与遗传杂志》
2011年第9期88-89,共2页
Chinese Journal of Birth Health & Heredity
