武汉市新生儿疾病筛查5年分析研究

ANALYSIS AND STUDY OF 5-YEAR NEWBORN DISEASES SCREENING IN WUHAN

[目的]回顾武汉市新生儿先天性甲状腺功能减低症和苯丙酮尿症5年来筛查情况,总结经验、查找不足,以促进新生儿疾病筛查工作。[方法]新生儿出生后72h,采足跟末梢血制成滤纸干血片,用FEIA法检测血片中TSH和Phe含量,将TSH值≥10mIU/L,Phe值≥2.0mg/dl的新生儿判为筛查阳性,并召回确诊。[结果]武汉市5年来,共筛查新生儿182339例,确诊CH患儿115例,CH发病率为0.631‰,男、女之比为1︰1.17,确诊PKU患儿11例,PKU发病率为0.60/万,5年来,CH和PKU发病率无显著上升或下降趋势。[结论]武汉市PKU发病率处于全国平均水平,但却是CH高发地区,各级政府部门和妇幼保健机构应加强新生儿疾病筛查网络建设、管理,进一步提高筛查覆盖率;要加强疾病鉴别诊断和治疗,同时加强新生儿CH高发病因的研究,降低缺陷儿发生率,提高我市出生人口素质。

[Objective] To explore CH and PKU morbidity in Wuhan in 5 years, and find out a better way to guhle future sereening work. [MethodS] A drop of plan＇tar blood was taken from newborns 72 hours after delivery, anti put onto a filter paper and dried. Blood levels of TSH and PHE were tested by FEIA method .The test resuhs were regarded as positive when TSH value ≥ 10 mIU/L or when PHE≥ 2.0 mg/dl by FEIA method. All positive cases were called back for futhe, diagnosis test. [ Results] A total 182 339 eases were screened in Wuhan in 5 years, among which 115 cases were diagriosed as CH. The morbidity rate of CH was 0.631‰, the ratio of male and female cases was 1 ： 1.17. 11 cases were diagnosed as PKU. The morbidity rate of PKU was 0.60/ten thousands.The trends of morbidity didn＇t significant inerease or decrease througout 5 years, [Conclusion] CH morbidity in Wuhan is still higher than that in other cities while PKU morbidity is within the average level. Government and women and children health eare institutes at all levels should strengthen the eonstruetion and management of screen network of neonatal disease, extend screening coverage, enforce identification and therapy of the diseases, study the causes of high morbidity of CH, reduce the occurenee of birth defeet, and improve the quality of the newborns in Wuhan,