338万新生儿疾病筛查及干预措施  

Screening and intervention measures of neonatal diseases among 3.38 million neonates

作　　者：曹琴英 陈伟华[2] 张宁[3] 周文静 胡炜[4] 朱俊真[2] 赵丽娟 

机构地区：[1]河北省石家庄市妇产科医院,050011 [2]河北省人民医院 [3]河北医科大学第二医院 [4]河北省卫生厅

出　　处：《中国妇幼保健》2011年第11期1632-1633,共2页Maternal and Child Health Care of China

基　　金：河北省卫生厅科研基金资助项目〔05376101D-18〕

摘　　要：目的:掌握河北省PKU和CH发病率以及遗传性代谢病发病率,为今后实施一级预防提供依据。方法:对住院分娩的活产新生儿按照卫生部《新生儿疾病筛查规范》采血,送筛查中心统一检测。结果:12年筛查活产新生儿3 374 610例,确诊PKU和CH共1 410例,检出率为4.18/万。苯丙酮尿症411例,发病率为1/8 211;先天性甲状腺功能低下症999例,发病率为1/3 378。35种遗传性代谢病筛查5 931例,筛出遗传性代谢病20种共204例患者,检出率为34.4‰,其中检出丙酸血症113例,占55.4%。结论:新生儿疾病筛查是降低残疾儿发生的有力措施,应进一步扩大覆盖面。Objective：To control the incidences of phenylketonuria（PKU）,congenital hypothyroidism（CH） and hereditary metabolic diseases,provide a basis for first-level prevention in future. Methods：The blood samples of live neonates who were born in the hospital were obtained according to screening specification of neonatal diseases,then the blood samples were detected by screening center uniformly. Results：In the past 12 years,3 374 610 live neonates were screened,1 410 neonates were diagnosed with PKU combined with CH definitely,the detection rate was 4.18/10 000.411 neonates were diagnosed with PKU,the incidence was 1/8 211;999 neonates were diagnosed with CH,the incidence was 1/3 378.5 931 neonates received screening of 35 kinds of hereditary metabolic diseases,204 neonates were diagnosed with 20 kinds of hereditary metabolic diseases,the detection rate was 34.4‰,including 113 neonates with propionic acidemia,accounting for 55.4%. Conclusion：Screening of neonatal diseases is an effective measure to reduce the occurrence of crippled children,the coverage should be enlarged

关 键 词：遗传性代谢病 新生儿疾病筛查 PKU CH 干预措施 

分 类 号：R715.8[医药卫生—妇产科学]