深圳市1998—2008年新生儿疾病筛查结果分析  

Neonatal screening in Shenzhen city,Guangdong,China:1998 to 2008

作　　者：黄晓春[1] 伍小秋[1] 黄荣彬[1] 刘一心[1] 陈斌[1] 文伟[1] 

机构地区：[1]深圳市妇幼保健院深圳市新生儿疾病筛查中心,518048

出　　处：《中国新生儿科杂志》2009年第4期220-222,共3页Chinese Journal of Neonatology

摘　　要：目的分析深圳市新生儿疾病筛查结果,对筛查检出率等进行探讨。方法应用自动连续微量流动荧光分析技术、荧光酶免法、酶联免疫法、细菌抑制法等技术,检测出生3d新生儿足跟血干血片中苯丙氨酸、促甲状腺素、总半乳糖含量及葡萄糖6磷酸脱氢酶活性,进行苯丙酮尿症、甲状腺功能减低症、半乳糖血症、葡萄糖6磷酸脱氢酶缺乏症的筛查。结果1998至2008年筛查了深圳市782630名新生儿,检出持续性高苯丙氨酸血症27例(经典型苯丙酮尿症15例,高苯丙氨酸血症8例,四氢喋呤缺乏症4例),甲状腺功能减低症458例,2002年8月至2008年12月筛查新生儿631878名,检出高半乳糖血症12例,葡萄糖6磷酸脱氢酶缺乏症4937例。结论新生儿疾病筛查是避免先天性遗传代谢病所致智障残疾等发生的有效措施之一。] Objective To analyse the results of Newborn Mass-screening Program, and to discuss the prevalence and incidence. Methods Blood samples from the heel of neonates three days after birth were taken, and Fluorometric Micro-continuous Flow System, Fluorescence enzyme immunoassay （FEIA）, Eenzyme immunoassay （ELISA）, and Bacterial inhibition assay （BIA） techniques were used to determine the level of Phenylketonuria （ PKU）, Thyroid Stimulating Hormone （TSH）, Total Galaetose （ T-Gal ）, and Glueose-6-Phosphate Dehydrogenase （ G6PD ）. These figures were then used for the examination of PKU, Congenital hypothyroidism （CH）, Galactosemia（ Gal）, and D6PD Def. Results The results of testing 782 630 newbom samples taken from 1998 to 2008 in Shenzhen revealed 27 cases of persistent high Phenylalaninemia（ 15 cases of PKU, 8 cases of HPA, 4 cases of BH4D and 458 cases of CH. In addition, from March, 2002 to December, 2008, testing 631878 newborn samples revealed 12 cases of Hypergalactosemia, and 4937 cases of G6PD Deficiency Conclusion Newborn Mass-screening Program has been shown to be an effective method in the detection of problems that might lead to childhood mental retardation.

关 键 词：新生儿筛查 苯丙酮尿症 甲状腺功能减退症 

分 类 号：R174[医药卫生—妇幼卫生保健]