泰安地区2010年～2012年度新生儿疾病筛查(四病)的结果分析

Analysis the results of neonatal screening from 2010 to 2012 in Taian

目的总结分析泰安地区2010～2012年新生儿疾病筛查结果,并对四种疾病的检出率进行探讨。方法采集新生儿足跟血于特殊滤纸上,检测样品中促甲状腺激素(TSH)、苯丙氨酸(Phe)、葡萄糖-6-磷酸脱氢酶(G6PD)、17α-羟孕酮(17α-OHP)的浓度。并对先天性甲状腺功能减低症(CH)、苯丙酮尿症(PKU)、葡萄糖-6-磷酸脱氢酶缺乏症(G6PD)、先天性肾上腺皮质增生症(CAH)进行筛查,对阳性可疑病例进行确诊检查。结果2010年8月至2012年12月共筛查新生儿161337例,共检出先天性甲状腺功能减低症(CH)52例,发病率为1/3103,苯丙酮尿症(PKU)37例(包括3例BH4D),发病率为1/4360,葡萄糖-6-磷酸脱氢酶缺乏症(G6PD)26例,发病率为1/6205,先天性肾上腺皮质增生症(CAH)8例,发病率为1/20167。结论 CH发病率略高于全国平均水平(1/3624),PKU发病率明显高于全国平均水平(1/11180),G6PD缺乏症发病率远低于华南、西南各省(4.483%),CAH发病率明显低于全国平均水平(1/10000-1/20000)。通过筛查及时检出病患儿及时治疗,可避免或减轻体格、智力发育落后,提高人口素质,减轻家庭、社会的负担,是出生缺陷三级预防中重要一环。

Objective：To summarize and analyze the results of screening of neonatal diseases and to explore incidence of CH,PKU,G6PD and CAH in Taian region from 2010 to 2012.Methods：Neonatal heel blood were collect on special filter paper,the concentration of TSH,Phe,G6PD and 17a-OHP were detected.CH,PKU,G6PD and CAH were screened to diagnosis of suspected cases.Results ：161337 neonates were screened from August of 2010 to December of 2012.52 cases were confirmed as CH,the incidence was 1/3103.37 cases were confirmed as PKU,the incidence was 1/4360.26 cases were confirmed as G6PD,the incidence was 1/6205.8 cases of CAH were confirmed and the incidence was 1/20167.Conclusion：Incidence of CH in Taian is slightly higher than the national average（1/3624）and PKU is significantly higher than the national average（1/11180）,the incidence of G6PD is much lower than the south-western provinces in South China（4.483%）.And the incidence of CAH was significantly lower than the national level（4.483%）.Patients detected by screening and treated timely can avoid or mitigate the physical,mental retardation,improve the quality of the population,reduce the burden on the family and society.It is a very important key in tertiary prevention of birth defects.