新生儿甲状腺功能低下和苯丙酮尿症筛查结果分析  

Analysis of congenital hypothyroidism and phenylketonuria neonatal screening in Weifang City

作　　者：王爱婷[1] 田维兵[1] 孙明强[1] 马宝海[1] 董天亮[1] 

机构地区：[1]山东省潍坊市妇幼保健院,261011

出　　处：《中国妇幼保健》2006年第2期197-198,共2页Maternal and Child Health Care of China

基　　金：潍坊市卫生局资助课题(课题编号:2003-06)

摘　　要：目的:对全市20万新生儿进行先天性甲状腺功能低下及苯丙酮尿症筛查,了解潍坊市两病发病率。方法:CH筛查采用时间分辨免疫荧光分析法(DELFIA)测定血促甲状腺激素(TSH)浓度,PKU筛查使用Guthrie′s法(细菌抑制法)及DELFIA法测定新生儿血片中的苯丙氨酸(Phe)含量,试剂由美国金桥公司提供。结果:潍坊市先天性甲状腺功能低下的发病率为1/5 350;苯丙酮尿症的发病率为1/9 241。结论:新生儿筛查的数量和新生儿疾病筛查覆盖率是影响新生儿疾病筛查发病率准确性的重要因素。局部的高筛查率并不能反映全市新生儿的发病率,只有大范围的高筛查率才能反映全市新生儿实际发病水平。Objective： To realize the ratio of congenital hypothyroidism （CH） and phenylketonuria （PKU） in Weifang City by neonatal screening. Methods： The CH screening was performed by determining the blood thyroid stimulating hormone （TSH） concentration with dissociation enhanced lanthanide fluoroimmunoassay （ DELFIA）, and the PKU was screened by determining the blood phenylalanine concentration with Guthrie bacterial inhibition assay and DELFIA assay. Results： The ratio of CH was 1/5 350, the ratio of PKU was 1/9 241. Conclusion： The amount and the area of the neonatal screening are two important factors which affect the variety of the incidence of CH or PKU. Only the high ratio and wide area of neonatal screening can reflect the true incidence of CH and PKU.

关 键 词：新生儿疾病筛查 甲状腺功能低下 苯丙酮尿症 

分 类 号：R174[医药卫生—妇幼卫生保健]