近14年四川省新生儿PKU及CH筛查情况分析

14-year analysis of neonatal phenylketonuria and congenital hypothyroidism screening in Sichuan Province

目的分析四川省近14年间新生儿苯丙酮尿症(PKU)和先天性甲状腺功能减低症(CH)的筛查情况,为卫生行政部门提供决策依据。方法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小时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PKU和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 14年来四川省新生儿苯丙酮尿症和先天性甲状腺功能减低症筛查率和覆盖面逐年明显提高,2013年筛查率达到91.74%,市(州)筛查覆盖率达到100%,县(区)筛查覆盖率达到94.48%,采血单位覆盖率达到74.30%,年度筛查率、市(州)、县(区)、采血单位筛查覆盖率均有极显著性差异(x^2值分别为4 530 453.36、157.76、970.97、12 314.65,均P<0.01)。2000至2013年四川省新生儿PKU和CH筛查数为4 348 607,成都市新筛中心、自贡市新筛中心、南充市新筛中心、四川省新筛中心的年度筛查率均有极显著性差异(x^2值分别为879 606.29、601 375.16、379 461.09、3 030 668.08,均P<0.01);确诊PKU138例,PKU发生率为1:31 511,CH1 711例,CH发生率为1:2542,各年度CH发病率有显著性差异(x^2=37.59,P<0.01),各年度PKU发病率无显著性差异(x^2=11.01,P>0.05)。四川省新生儿苯丙酮尿症和先天性甲状腺功能减低症筛查仍有提升空间,筛查工作还有待进一步深入。结论 14年来四川省新生儿苯丙酮尿症和先天性甲状腺功能减低症筛查工作取得明显成效,显示出明显的社会效益,需进一步加大相关工作力度,提高新生儿遗传代谢病筛查率和筛查质量。

Objective To analyze the results of neonatal phenylketonuria （ PKU ） and congenital hypothyroidism （ CH ） screening in Sichuan Province in the past 14 years and provide scientific basis for health bureau to make decision.Methods The medical staff carried out health education on neonatal screening.After parents’ informed consent, newborn blood samples were collected, saved and delivered. The medical staff of neonatal screening center accepted the blood samples timely, detected the qualified samples for screening of PKU and CH, reviewed the suspicious or positive results, and noticed the confirmed positive results.Results In the past 14 years, the neonatal screening rate and coverage rate increased significantly year by year in Sichuan Province.In 2013 the neonatal screening rate reached 91.74%, the coverage rate of city （state） reached 100%, the coverage rate of county （district） reached 94.48%, and the coverage rate of blood collection units reached 74.30%.There were significant differences in yearly screening rate, coverage rate of city （ state）, coverage rate of county （district） and coverage rate of sampling units （χ^2 value was 4 530 453.36, 157.76, 970.97 and 12 314.65, respectively, all P〈0.01）.In total there were 4 348 607 newborns screened in the period of 2000-2013.There was significant difference in yearly screening rate among Chengdu Screening Center, Zigong Screening Center, Nanchong Screening Center and Sichuan Provincial Screening Center （χ^2 value was 879 606.29, 601 375.16,379 461.09 and 3 030 668.08, respectively, all P〈0.01）.A total of 138 cases of PKU were identified with an incidence of 1：31 511, and 1 711 cases of CH were identified with an incidence of 1：2 542.The incidence of CH was significantly different among years （χ^2 =37.59, P〈0.01）, but that of PKU was not significantly different （χ^2 =11.01,P〉0.05）.The screening of PKU and CH in Sichuan Province needed to be improved further.Conclusion The work of neonatal PKU and CH screening in Sichuan Province has achieved significant achievements in the past 14 years, and it has showed obvious social benefits.It needs intensifying related work further to improve neonatal inherited metabolic disease screening rate and quality.