毕节地区新生儿疾病筛查网络建立与管理效果评价

Establishment of screening network of neonatal diseases and evaluation of management effect in Bijie region

目的:在边远地区开展新生儿疾病筛查,建立新生儿筛查与诊断治疗网络,以降低边远地区的新生儿先天性病率,达到提高人口素质,缩小与发达地区差距目的。方法:依托全区妇幼卫生三级网络,建立新生儿先天性甲状腺功能减低症(CH)、苯丙酮尿症(PKU)疾病筛查、诊断、治疗服务体系,并纳入卫生行政部门年度工作任务。结果:筛查网络已覆盖了全区县、乡、镇104家接产医院,至2010年底共筛查新生儿83 204人。筛查率2007年0.11%,2008年16.77%,2009年37.94%,2010年达48.89%。筛查可疑阳性患儿238例,可疑阳性患儿及确诊患儿的召回率为91.01%,诊断新生儿CH疾病36例,发病率为1∶2 311;PKU疾病2例,发病率为1∶41 602。有效地降低全区的新生儿先天性病率。结论:开展新生儿筛查使新生儿在临床上尚未出现疾病表现作出早期诊断,结合有效的治疗干预措施,避免患儿重要脏器出现不可逆性损害,保障儿童正常的体格发育和智能发育。

Objective：To establish neonatal screening,diagnosis and treatment network by carrying out screening of neonatal diseases in remote and border areas,in order to reduce the incidences of neonatal congenital diseases in remote and border areas,achieve the goal of improving the quality of population and shortening the gap between developed areas and remote and border areas. Methods：The service system of screening,diagnosis and treatment of neonatal congenital hypothyroidism（CH） and phenylketonuria（PKU） was established relying on three-stage network of maternity and child hygiene in the whole region,then it was included into annual work tasks of health administration department. Results：The screening network covered 104 hospital in counties,villages and towns in the whole region,83 204 neonates were screened at the end of 2010.The screening rate was 0.11% in 2007,16.77% in 2008,37.94% in 2009 and 48.89% in 2010.238 neonates were suspicious positive neonates,the recall rate of suspicious positive neonates and definitely diagnosed neonates was 91.01%;36 neonates were diagnosed as CH,the prevalence was 1∶2 311;2 neonates were diagnosed as PKU,the prevalence was 1∶41 602.The incidences of neonatal congenital diseases were reduced effectively in the whole region. Conclusion：Neonatal screening can diagnose the diseases without apparent clinical symptoms early,combined with effective intervention measures,the irreversible injury to important organs of neonates can be avoided to ensure the normal physical development and intelligence development of children.