Abstract: Objetive To analyze the results of neonatal phenylketonuria(PKU) and congenital hypothyroidism(CH) screening of Sichuan province from 2000 to 2009 and provide scientific basis for health bureau to make decision. Methods The medical staff of blood collection units carried out health education of neonatal screening,collected,saved and delivered the newborn blood samples after parents informed consent;The medical staff of the neonatal screening center accepted the blood samples timely,detected the qualified samples for screening of PKU and CH,reviewed the suspicious or positive results,noticed the confirmed positive results. Results The neonatal screening rate and coverage rate were increased significantly year by year in Sichuan province from 2000 to 2009,the neonatal screening rate reached 67.50%,the coverage rate of city (state) reached 100%,the coverage rate of county (district) reached 87.29%,the coverage rate of blood collection units reached 90.98% in 2009;In total there were 1 721 340 newborns screened from 2000 to 2009,67 cases of PKU were identified with a detectable rate of 1∶25 692,699 cases of CH were identified with a detectable rate of 1∶2 573. Conclusions The work of neonatal PKU and CH screening in Sichuan province has achieved significant results in the past 10 years,it has showed obvious social benefits.The current rate of neonatal screening have room to improve further,screening work remained to be in-depth further.

Key words: neonatal disease screening, congenital hypothyroidism, phenylketonuria

摘要： 目的 分析四川省10年间新生儿苯丙酮尿症和先天性甲状腺功能减低症筛查情况,为卫生行政部门提供决策依据。方法 采血单位医务人员开展新生儿疾病筛查健康教育,经家长知情同意后对出生72 h后的新生儿进行血样标本采集、保存和递送;新筛中心及时验收血样标本,对合格标本进行苯丙酮尿症(phenylketonuria,PKU)和先天性甲状腺功能减低症(congenital hypothyroidism,CH)筛查,对可疑或阳性结果进行复查,复查阳性者通知确诊。结果 10年来本省新生儿PKU和先天性CH筛查率和覆盖面逐年明显提高,2009年筛查率达到67.50%,市(州)筛查覆盖率达到100%,县(区)筛查覆盖率达到87.29%,采血单位覆盖率达到90.98%;2000-2009年本省新生儿PKU和CH筛查数为1 721 340,确诊PKU67例,PKU发生率为1∶25 692,CH699例,CH发生率为1∶2 573。结论 10年来本省新生儿PKU和先天性CH筛查工作取得明显成效,显示出明显的社会效益,但仍有提升空间,筛查工作还有待进一步深入。

关键词: 新生儿疾病筛查, 先天性甲状腺功能低下症, 苯丙酮尿症