清远市149612例新生儿疾病筛查结果回顾性分析

目的通过回顾性分析清远市149 612例新生儿疾病四项筛查结果,了解清远市新生儿疾病筛查情况及召回率,为进一步提高新生儿疾病筛查的质量提供依据。方法应用芬兰Ani Labsystems公司提供的筛查试剂盒,对149 612份标本进行促甲状腺激素(h TSH)、苯丙酮尿症(PKU)、葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症实验检测,应用法国Sebia Capillarys全自动毛细管电泳仪测定新生儿血红蛋白,从而检测地中海贫血。结果 2016年1月-2018年9月清远市各分娩单位出生新生儿156 323例,接受新生儿疾病筛查的有149 612例,筛查率为95. 71%,其中PKU可疑阳性1 441例,召回1 387例,确诊3例;先天性甲状腺功能减低可疑阳性5 753例,召回3 380例,确诊1 221例;G6PD可疑阳性10 269例,召回4 210例,确诊2 754例;130 669例新生儿中,α地中海贫血可疑阳性11 582例,召回4 272例,确诊3 305例;β地中海贫血可疑阳性8 606例,召回5 463例,确诊1 041例,其中α地中海贫血复合β地中海贫血220例。结论新生儿疾病四项筛查是先天遗传代谢病早期诊断的有效方法,也是现代预防医学的一项重要内容,可有效避免患儿发生体格和智能不可逆的永久性损伤,对地中海贫血防控、优生优育具有重要深远的意义。

Retrospective analysis the results of 149 612 newborns neonatal diseases screening in Qingyuan

Objective Through a retrospective analysis of the four screening results of 149 612 newborns’ neonatal diseases and the recall rates of the neonatal diseases in Qingyuan,which provides a basis for improving the quality of neonatal disease screening. Methods h TSH,PKU and G6 PD were detected by screening kit which provided by the Finnish company,neonatal hemoglobin was detected by the French Sebia Capillarys fully automatic capillary electrophoresis. Results 156 323 newborns were born in Qingyuan from January of 2016 to September of 2018,149 612 were detected for neonatal diseases,and the screening rate was 95. 71 %,1 441 cases were PKU suspicious positive,1 387 were recalled and 3 newborns were diagnosed. 5 753 cases were CH suspicious positive,3 380 cases were recalled,1 221 cases were diagnosed;G6 PD suspicious positive were 10 269 cases,4 210 cases were recalled,2 754 cases were diagnosed. In the 130 669 hemoglobin electrophoresis detection cases,11 582 cases were suspicious positive,4 272 were recalled,and 3 305 were diagnosed,8 606 cases were suspected positive of beta-poverty,5 463 cases were recalled,and 1 041 cases were diagnosed,of which 220 cases were α-poor compound β-poor. Conclusion The four screening of neonatal diseases is an effective method for the early detection of congenital genetic metabolic diseases,and it is also an important content of modern preventive medicine,it can avoid irreversible permanent physical and mental damage in children,and has far-reaching significance for the prevention and control of poverty.