目的对新疆地区自2009年新生儿疾病筛查项目开展工作4年来取得的成效及现状进行研究分析,为今后该项工作日趋完善提供对策和依据。方法以2009年~2013年新疆地区所有出生的新生儿为对象,在出生72h,充分母乳后采集足跟血检测苯丙氨酸含量。筛查结果阳性者及时召回,二次复查确诊并追踪评价治疗效果。结果共筛查新生儿500228例,筛查率从2009年0.92%上升至2013年48.35%,可疑阳性召回率为76.31%;共检出苯丙酮尿症阳性数106例,发病率为1:4719;全部阳性患者经早期诊断治疗,患儿的体格和智力等发育无明显异常。结论新生儿疾病筛查是苯丙酮尿症早期诊断的有效措施之一,也是预防PKU患儿智力和体格发育低下的关键。建立有效的筛查召回网络,规范业务流程,加大宣传力度和加强基层培训能有效提高筛查率和召回率。 Objective To study and analyze the effectiveness and current situation of Xinjiang Nephrology Screening Project carried out since 2009 in the past four years so as to provide countermeasures and basis for improving the work in the future. Methods From 2009 to 2013, all newborns born in Xinjiang were enrolled. Blood samples were collected for the detection of phenylalanine after 72 hours of full breast feeding. Screening positive results were promptly recalled, the second review confirmed and tracked to evaluate the treatment effect. Results A total of 500228 newborns were screened, the screening rate increased from 0.92% in 2009 to 48.35% in 2013, and the suspicious positive recall rate was 76.31%. A total of 106 cases were positive for phenylketonuria, with a prevalence of 1: 4719 ; All positive patients were diagnosed and treated early, physical and mental development of children with no obvious abnormalities. Conclusion Neonatal disease screening is one of the effective measures for the early diagnosis of phenylketonuria. It is also the key to prevent the mental and physical development of children with PKU. Establishing an effective screening and recall network, standardizing business processes, increasing publicity and strengthening primary training can effectively improve the screening rate and recall rate.