中文摘要：

目的：调查和分析宁夏回族自治区新生儿疾病筛查现状。方法：按照卫生部《新生儿疾病筛查技术规范》于新生儿出生后72 h,充分哺乳后采足跟血3滴渗在滤纸片上,通过邮政快递至新生儿疾病筛查中心,通过实验室检测方法测定血苯丙氨酸（Phe）和TSH浓度。结果：宁夏自2007年8月开展新生儿疾病筛查工作以来,筛查率逐渐提高,2011年达83.87%。5年来共筛查136 909万名新生儿,确诊苯丙酮尿症患儿40名,发病率0.29‰（1/3 423）,先天性甲状腺功能减低症37名,发病率0.27‰（1/3 700）,苯丙酮尿症发病率高于我国其他城市地区水平,可疑阳性病例复查率达80.00%。结论：依法服务,加强管理,提高新生儿疾病筛查率和可疑阳性患儿追访率,减少因CH、PKU发生的残疾。

英文摘要：

Objective：To investigate and analyze the current situation of neonatal diseases screening in Ningxia Hui autonomous region.Methods：Three drops of heel blood were Abstracted from the neonates at 72 hours after birth into filter papers after lactation according to neonatal diseases screening technique and norm,then the filter papers were expressed to neonatal diseases screening center,blood phenylalanine and thyroid stimulating hormone（TSH） concentrations were detected by laboratory test methods.Results：Neonatal diseases screening was conducted in Ningxia in August 2007,then the screening rate in 2011 was 83.87%,showing an increasing trend year by year.From 2007 to 2011,a total of 136 909 neonates were screened,and 40 neonates were diagnosed as phenylketonuria,the incidence was 0.29‰（1/3 423）;37 neonates were diagnosed as congenital hypothyroidism,the incidence was 0.27‰（1/3 700）,the incidence of phenylketonuria in Ningxia was statistically significantly higher than those in the other cities in China,the secondary screening rate of suspected positive patients was 80.00%.Conclusion：Supplying service according to law and enhancing management can improve screening rate of neonatal diseases and follow-up rate of suspected positive children,reduce disability induced by congenital hypothyroidism and phenylketonuria.