青岛市四方区1997——2007年新生儿疾病筛查回顾性分析

目的 回顾分析1997-2007年四方区新生儿先天性甲状腺功能低下（CH）、苯丙酮尿症（PKU）的筛查情况．总结经验．使新生儿筛查工作更加正规化、制度化，最大限度地降低智障儿的发生。方法 新生儿出生后72h采足跟血滴于美国进口滤纸上，用荧光法检测血促甲状腺素（TSH），苯丙氨酸（Phe）浓度。结果 四方区11年来共筛查29814例，确诊CH14例．（男：女=1：2．5）发病率为0．470％。；PKU患儿1例，发病率为0．033％。结论 新生儿疾病筛查是CH，PKU患儿早期诊断的有效方法：政府支持、政策得力、健全妇幼保健三级网络及严格控制实验室质量．保证100％的追访治疗率．是完善新生儿疾病筛查工作．有效降低智障儿发生的有效手段。

Retrospective Analysis of Neonatal Disease Screening in Qingdao Sifang District from 1997-2007

OBJECTIVE By analyzing retrospectively screening status of congenital neonate hypothyroidism（CH）and phenyl ketonuria （PKU） disease screening in Qingdao Sifang District from1997-2007, summarize the experience of neonatal screening, make it normal- ization and institutionalization, and decease incidence rate of neonate mental retardation. METHODS Heel blood of neonate was got postnatal 72 hours, then was dropped on the filter paper, bood thyrotrophin and phenylalanine were detected by fluorometric method. RESULTS 29 814 neonates were screened during 11 years in Sifang District, 14 cases CH was diagnosed, male： female=1： 2.5, incidence fate was 0.470%; 1 case of PKU was diagnosed, incidence rate was 0.033%. CONCLUSIONS Neonatal screening is effective method for the earlier diagnosis ofneonatal CH and PKU, government support, effective policy, perfect three stage network, strictlaboratory quality, 100 percent follow-up and treatment is the effective method for improving neonatal screening and decreasing neonate mental retardation.