宝鸡市眉县地区2007-2014年新生儿TSH、Phe筛查结果分析  

Analysis on screening results of TSH and Phe in neonatal in Mei County from 2007 to 2014

作　　者：王文娟[1] 武雅俐[1] 屈萍[1] 张娟玲[1] 成艳[1] 韩凯[1] 梁会娟[1] 刘郁明[1] 

机构地区：[1]陕西省宝鸡市妇幼保健院遗传优生实验室,陕西宝鸡721099

出　　处：《中国优生与遗传杂志》2016年第2期84-85,87,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的 分析宝鸡市眉县地区新生儿筛查结果,探讨该县苯丙酮尿症（PKU）及先天性甲状腺功能减低症（CH）的发病情况。方法 对2007年7月~2014年12月所采集辖区内20 719例新生儿滤纸干血斑送市筛查中心,采用时间分辨荧光分析法（Tr-FIA）检测干血斑TSH和Phe浓度,回顾分析PKU和CH检出情况。结果 8年间共检出CH患儿7人（男4例,女3例）,发病率为1：2960;PKU患儿8人（男4例,女4例）,其中BH4缺乏症1例,发病率为1∶2590。结论 CH发病率低于2014年全市发病率1∶1697,高于我国CH发病率1∶3009。8年间PKU发病率为1∶2590,明显高于宝鸡市1∶3129和全国1∶11 188的发病率,并有BH4缺乏症1例检出。摸清眉县CH、PKU发病的本底资料,为指导今后筛查工作的开展以达到早诊断、早干预、早治疗,避免残疾儿出生具有积极的指导意义。Objective.. To understand the incidence of PKU and CH in this region by analysing screening results of TSH and Phe in neonatal. Methods： 20 719 pieces of filter paper with dried blood spot of newborn in Mei Country were collected during July 2007 to December 2014. Specimens were sent to the city screening center and time-resolved fluoroimmunoassay was used to detect concentrations of TSH and Phe. Retrospective analysis was used to measure the detection of PKU and CH. Results： 7 cases infant of CH （4 boys and 3 gifts） and 8 cases infant of PKU （4 boys and 4 gifts） were detected during 8 years, and the incidence rate of CH and PKU was 1：2960 and 1：2590 respectively. Conclusion： Incidence rate of CH in 2014 was lower than city average rate （ 1： 1697） , but higher than national average rate （ 1： 3009） . However, Incidence rate of PKU was 1： 2590 during 8 years, which was obviously higher than city average rate （ 1： 3129） and national rate （ 1： 11 188） , and 1 case of BH4 deficiency was checked out. There is very important directive significance to find out background data of CH and PKU of Mei Country, which could direct following work of newborn screening to early diagnosis, early intervention and early treatment, and to avoid crippled child birth.

关 键 词：新生儿筛查 苯丙酮尿症 甲状腺功能减低症 

分 类 号：R722.1[医药卫生—儿科]