新生儿苯丙酮尿症、先天性甲状腺功能低下筛查分析(附38286例报告)  

Screening analysis for phenylketonuria, congenital hypothyroidism in 38 286 newborns

作　　者：何美丽 李娜 樊静 郭亮 

机构地区：[1]陕西省咸阳市妇幼保健院妇产科,712046 [2]陕西省咸阳市妇幼保健院检验科,712046

出　　处：《北京医学》2014年第4期275-277,共3页Beijing Medical Journal

摘　　要：目的探讨新生儿苯丙酮尿症及先天性甲状腺功能低下筛查的应用价值。方法选择2012年8月至2013年8月38 286例新生儿,对其干血样进行新生儿疾病筛查。苯丙酮尿症筛查指标为血苯丙氨酸(phe),实验室方法用免疫荧光分析法。先天性甲状腺功能低下筛查指标为血促甲状腺素(TSH),实验室方法用时间分辨免疫荧光分析法。结果苯丙酮尿症筛查38 286例,初筛阳性130例,阳性率3.395‰;确诊9例,确诊率69.230‰;发病率0.235‰。先天性甲状腺功能低下筛查38 286例,初筛阳性60例,初筛阳性率1.567‰,确11例,初筛阳性确诊率183.333‰,发病率0.287‰。结论开展新生儿疾病筛查对降低出生缺陷,提高我国人口素质有重要意义。Objective To understand the prevalence of phenylketonuria （PKU ） and congenital hypothyroidism （CH） in the city＆#39;s newborns and evaluate the value of the screening with the dried blood samples. Methods The indicators of phenylketonuria phenylalanine （phe） was tested in the blood by immunofluorescence analysis. The indicator of congenital hypothyroidism blood thyrotropin （TSH） was tested by time-resolved immunofluorescence assay. Results Among the 38,286 neonates, 130 had a positive phenyketourina screening test, the screening positive rate was 3.395‰and 9 were di-agnosed as phenylketouria. The screening positive diagnosis rate was 69.230‰ and the incidence was 0.235‰. Sixty neonates were positive for the congenital hypothyrodism, the screening positive rate was 1.567‰. Eleven were diagnosed as congenital hypothyroidiam, therefore, the diagnosis rate of positive screening was 18.3%, the incidence rate was 0.287‰. Conclusion Neonatal screening can reduce birth defects, so it is important in improving the quality of our population.

关 键 词：新生儿 筛查 苯丙酮尿症 先天性甲状腺功能低下 PHENYLKETONURIA (PKU) CONGENITAL HYPOTHYROIDISM (CH) 

分 类 号：R722.1[医药卫生—儿科]