2012—2021年朝阳区新生儿遗传代谢病筛查工作质量评价

Quality assessment of screening for neonatal inherited metabolic disease in Chaoyang District from 2012 to 2021

目的评价2012—2021年北京市朝阳区新生儿遗传代谢病筛查工作质量,为提高新生儿遗传代谢病筛查管理质量和效率提供参考。方法通过北京市新生儿疾病筛查中心收集2012—2021年朝阳区新生儿遗传代谢病筛查资料,分析筛查率、血片采集合格率、可疑病例复查率,以及先天性甲状腺功能低下症(CH)、苯丙酮尿症(PKU)和先天性肾上腺皮质增生症(CAH)等疾病确诊情况,以评价朝阳区新生儿遗传代谢病筛查工作质量。结果2012—2021年朝阳区活产新生儿484002人,累计筛查新生儿481395人,筛查率为99.46%,血片采集合格率为99.71%。筛查检出可疑阳性病例4305例,召回复查4148例,可疑病例复查率为96.35%;其中CH、PKU和CAH复查率分别为96.37%、96.79%和95.65%。累计确诊遗传代谢病482例,总发病率为1/999;其中CH 307例,发病率为1/1568;高促甲状腺激素血症103例,发病率为1/4674;PKU 66例,发病率为1/7294;CAH 6例,发病率为1/20233。结论2012—2021年朝阳区新生儿遗传代谢病筛查率和复查率均保持在95%以上,需继续完善新生儿筛查管理模式,进一步提高可疑病例召回复查率。

Objective To evaluate the quality of neonatal inherited metabolic diseases screening in Chaoyang District,Beijing Municipality from 2012 to 2021,so as to provide insights into improvements in the screening quality and effi-ciency of neonatal inherited metabolic diseases.Methods Data pertaining to screening of neonatal inherited metabolic disease in Chaoyang District from 2012 to 2021 were captured from Beijing Center for Neonatal Disease Screening.The percentage of screening,eligible rate of blood smears collection,re-examination rate of suspected cases,and definitive diagnosis of congenital hypothyroidism(CH),phenylketonuria(PKU)and congenital adrenal hyperplasia(CAH)were ana-lyzed to evaluate the quality of neonatal inherited metabolic diseases screening in Chaoyang District.Results There were 484002 live neonates in Chaoyang District from 2012 to 2021,and 481395 neonates were screened for inherited metabolic diseases,with a screening rate of 99.46%and 99.71%eligible rate of blood smears collection.A total of 4305 suspected positive cases were screened,including 4148 cases recalled for re-examinations,with a 96.35%re-ex-amination rate of suspected cases,and the re-examination rates of CH,PKU and CAH were 96.37%,96.79%and 95.65%,respectively.Totally 482 neonates were definitively diagnosed with inherited metabolic diseases,with an overall incidence rate of 1/999,and the incidence rates of CH(307 cases),hyperthyrotropinemia(103 cases),PKU(66 cases)and CAH(6 cases)were 1/1568,1/4674,1/7294 and 1/20233,respectively.Conclusions The screening rate and re-examination rate of neonatal inherited metabolic diseases was both more than 95%in Chaoyang District from 2012 to 2021.Improving the management of neonatal inherited metabolic diseases screening and the recall of suspected cases is required.