北京市西城区2004年-2012年新生儿疾病筛查情况分析

目的分析2004至2012年北京市西城区新生儿疾病筛查情况。方法采用回顾性研究的方法，统计和分析2004至2012年在西城区各助产机构出生的新生儿先天性甲状腺功能低下和苯丙酮尿症筛查数据。结果9年间西城区活产73890人，筛查72637人，随活产数增加筛查人数逐年增多，平均筛查率为98．30％。检出先天性甲状腺功能低下33例，检出率为O．45‰；检出苯丙酮尿症13例，检出率为0．18‰；可疑患者复查率为95．77％；未复查的可疑患者32人，其中流动人口占62．50％。结论新生儿疾病筛查是先天性甲状腺功能低下和苯丙酮尿症三级预防的重要且有效的方法，继续科学规范管理，特别加强流动人口的管理，通过多种途径提高新生儿疾病筛查率和复查率。

Review of newborn screening in Xicheng District of Beijing from 2004 to 2012.

Objective： To analyze the results of newborn screening （NBS） in Xicheng District of Beijing from 2004 to 2012.Methods： Retrospective study method was used to analyze the screening data of congenital hypothyroidism （CH） and phenylketonuria （PKU） at born in midwifery institutions of Xicheng District from 2004 to 2012. Results： During these 9 years 72637 of 73890 cases of live-born were surveyed. With the increasing of live-born neonates, the number of newborns screened grew year by year, and the average screening rate reached 98.30%. CH was detected in 33 cases with detection rate of 0.45%o, and PKU in 13 cases with detection rate of 0.18%o.The reexamination rate of suspicious patients was 95.77%, and there were 32 suspicious patients who did not receive re-examination, 62.50% of them were floating population. Conclusion： NBS is an important and effective method of third-level prevention of CH and PKU. It is effective to increase the disease screening rate and re- examination rate by scientific and standardized management, especially strengthening administration of floating population.