新疆巴音郭楞蒙古自治州5年新生儿疾病筛查回顾性分析

A Retrospective Analysis of Neonatal Screening for 5 Years in Bayingol Mongolian Autonomous Prefecture in Xinjiang

目的分析新疆巴音郭楞蒙古自治州2010—2014年新生儿先天性甲状腺功能减退症(CH)和苯丙酮尿症(PKU)的筛查结果,为进一步提高新生儿疾病筛查的管理水平及干预措施提供依据。方法采集出生72h后、正常哺乳的新生儿足跟血于特定滤纸上,进行CH及PKU筛查。使用时间分辨荧光免疫方法检测干血片的促甲状腺激素(TSH)的水平,采用荧光法检测苯丙氨酸(PHE)含量。结果 2010—2014年,新疆巴音郭楞蒙古自治州共筛查新生儿44731名,筛查率由2010年的25.59%提高到2014年74.86%,共确诊CH 7例,平均检出率1:4017;PKU6例,平均检出率1:3209。结论新生儿疾病筛查工作应在政府的领导和支持下,不断健全网络,规范管理,加强健康教育,才能有效提高筛查率和召回复查率,使患儿得到早期诊断和治疗,从而提高人口素质,减少残疾儿童的发生。

Objective To present the results of the Bayingol Mongolian Autonomous Prefecture in Xinjiang neonatal screening program for congenital hypothyroidism（CH） and Phenylketonuria（PKU） from 2010 to 2014 with a view to further improve the quality in the management of neonatal screening. Methods Blood samples taken from the heel of the 3- day old neonates of CH and PKU screening. CH was screened by TSH measurement by time- resolved fluorescence immunoassay. Phenylalanine were detected by fluorimetric method to screen for PKU. Results From 2010 to 2014 a total of 44731 neonates were screened. The screening coverage for all newborns increased from 25.59% in 2010 to 74.86% in 2014. There were 7 positive CH case and the incidence is 1：4017, 6 Cases were confirmed PKU and the incidence is 1：3209. Conclusion Neonatal screening should be done under the leadership and support of the government,continuously improving the net work, standardizing management and enhancing the health education in order to effectively improve the screening rate. So that children receive early diagnosis and treatment, thereby enhance the population quality and reduce the incidence of children with disabilities.