2000—2008年广州市新生儿疾病筛查召回结果分析

Analysis of newborn screening and recall for phenylketonuria and congenital hypothyroidism in Guangzhou for nine years

目的回顾性分析广州市9年新生儿疾病筛查和召回结果,总结新生儿筛查召回经验,提高新生儿筛查服务的有效性。方法对2000—2008年广州市新生儿疾病筛查中心先天性甲状腺功能低下症(CH)、苯丙酮尿症(PKU)的筛查和召回结果进行回顾性分析,以广州市新生儿筛查中心为中心建立各区妇幼保健院及所有产科医院的筛查网络,以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TSH浓度、苯丙氨酸含量。筛查结果阳性者及时召回,以血清标本复查确诊。结果2000—2008年广州市新生儿疾病筛查中心共筛查新生儿914658例,召回率为94.54%,共检出阳性数为386例,比率为0.042%;其中先天性甲状腺功能减低症筛查阳性数为354例,发病率为1∶2584,苯丙酮尿症筛查阳性数为32例,发病率为1∶28583。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先天性甲状腺功能低下症、苯丙酮尿症早期诊断的有效措施之一,建立有效的筛查召回网络,规范业务流程,加强基层培训和提高患者家属认识能有效提高筛查率和召回率,做到早诊早治,有效地防止患儿智力和体格发育低下以及其他器官功能的损害。

Objective A retrospective analysis of newborn metabolic disease screening and recall in Guangzhou for nine years was performed to summarize the recall experience of newborn disease screening and to improve the availability of newborn disease screening service. Methods The results of newborn screening and recall for phenylketonuria and congenital hypothyroidism in Guangzhou between 2000 and 2008 year were analyzed. The newborn disease screening network was established in all obstetric hospitals in Guangzhou, and the newborns were screened within 72 hours after birth for congenital hypothyroidism （ CH）, phenylketonuria （ PKU ） by measuring thyroid - simulating hormone （TSH） and phenylalanine concentration on dried blood spots on filter paper cards. Newborns were recalled after screened positive and the diagnosis was made by testing serum concentration. Results A total of 914,658 newborns were screened from 2000 to 2008 and the recall rate was 95.54 %. 386 cases was positive and the total positive rate was 0. 042%. 354 cases were confirmed positive for CH, with an incidence of 1/2584. 32 cases were confirmed positive for PKU, with an incidence of 1/28583. Through early diagnosis and treatment, patients did not develop significant physical and intellectual abnomality. Conclusion The results of this study confirm the benefit of early detection and treatment of CH and PKU through the newborn screening program. The availability of screening and recalling network and the criteria of operation procedure were established and enhanced cognition of doctors and parents improves screening and recalling rate. Early diagnosis and treatment is of great help in disease prevention among newborns.