山东省潍坊市53250例新生儿疾病筛查分析  

Shandong province Weifang city in 53 250 cases of neonatal disease screening analysis

作　　者：李传胜[1] 吴茂萍[1] 徐宏飞 魏莉[1] 张兰香[1] 李燕华[1] 

机构地区：[1]潍坊市妇幼保健院儿童保健科新筛中心,261011 [2]潍坊市红十字中心血站

出　　处：《中国优生与遗传杂志》2013年第8期92-92,7,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨潍坊市新生儿先天性甲状腺功能低下(CH)和苯丙酮尿症(PKU)的发病率,治疗方法及干预效果,为CH和PKU治疗与干预提供依据。方法新生儿出生72h后采足跟血,用流式荧光法检测PHE含量,用酶联免疫吸附试验测血片中TSH浓度。结果活产儿67 259例,新生儿疾病筛查实验53 250例,筛查率79.2%;CH 12例,检出率1/4438;PKU 8例,检出率1/6656。结论新生儿CH和PKU经筛查可早发现,早诊断,早治疗及干预,从而使患儿生长发育指标,智能达到同龄水平。Objective： Investigate Weifang city of neonatal congenital hypothyroidism（CH） and phenylketonuria（PKU） morbidity,treatment methods and effect of intervention,as CH and PKU treatment and intervention for them.Methods： The neonatal 72h heel blood after mining,with flow cytometry assay for detection of PHE content,using enzyme-linked immunosorbent assay for measuring TSH concentration in blood.Results： Live births in 67 259 cases,53 250 cases of newborn disease screening tests,screening rate of 79.2%;in 12 cases of CH,the detection rate of 1 /4438;PKU 8 cases,1 /6656.Conclusion： The detection rate of neonatal CH and PKU through screening early detection,early diagnosis,early treatment and intervention,so that the children growth index,AI reach the age level.

关 键 词：甲状腺功能低下 苯丙酮尿症 早期干预 疾病筛查 新生儿 

分 类 号：R722.1[医药卫生—儿科]