20年新生儿先天性甲状腺功能低下症和苯丙酮尿症筛查  

Report on 20 years neonatal screening for congenital hypothyroidism and phenyletonuria

作　　者：田国力[1] 许洪平[1] 朱伟明[1] 管翌华[1] 王燕敏[1] 

机构地区：[1]上海交通大学附属儿童医院,上海200040

出　　处：《上海预防医学》2007年第5期210-212,共3页Shanghai Journal of Preventive Medicine

摘　　要：[目的]开展先天性甲状腺功能低下症(CH)和苯丙酮尿症(PKU)筛查,降低残疾儿童的发生率,提高我国人口素质。[方法]20年来应用时间分辨荧光免疫法(Tr-FIA)和细菌抑制法(B IA)或荧光法测定新生儿滤纸干血片上促甲状腺素(TSH)和苯丙氨酸(Phe)浓度筛查CH和PKU。[结果]Tr-FIA法筛查新生儿609 037人,确诊阳性170例,CH发生率为2.79/万。B IA法筛查新生儿198 405人,确诊阳性10例,PKU发生率为5.04/10万,漏诊2例;荧光法筛查新生儿321 127人,确诊阳性27例,PKU发生率为8.40/10万。[结论]筛查新生儿CH,Tr-FIA法是灵敏度高、特异性强、精确度佳、重复性好、无放射性、能自动测定的理想方法;荧光法筛查PKU较B IA法更灵敏、准确,且具有定量、费时少等特点。重视和规范实验室质量控制,是使每批筛查检测结果准确、可靠的有力保证。[ Objective ] To develop the screening of newborns for congenital hypothyroidism （ CH ） and phenyletonuria （PKU） to prevent the children from mental retardation and improve the eugenics of our country. [ Methods] Concentrations of thyroid stimulating hormone （TSH） and phenlalanine （Phe） in dried blood spots on filter paper were measured by time - resolved fluorescence immunoassay （ Tr - FIA）, bacterial inhibition assay （BIA） or fluorometric method. [ Results ] 609 037 neonates were screened for CH, 170 cases were confirmed and the incidence was 2.79/10,000. Of 198 405 neonates screened for PKU by BIA, 10 were found to be defective, the incidence being 5.04/100,000. Two cases were missed. Of 321 127 neonates screened by fluorometric method, 27 cases were confirmed, the incidence was 8.40/100,000. [ Conclusion] Tr -FIA is an ideal technique for screening CH for its excellent precision and accuracy. The quantitative fluorometric method is more sensitive and less time - consuming than BIA. The laboratory quality control is an important part in neonatal screening and can ensure the stability of the analytical process in newborn screening.

关 键 词：新生儿疾病筛查 时间分辨荧光免疫法 细菌抑制法 荧光法 质量控制 

分 类 号：R722.1[医药卫生—儿科]