成都市2011—2021年新生儿遗传代谢病筛查结果分析及30年筛查变化情况分析  

Analysis on neonatal screening for inherited metabolic diseases in Chengdu from 2011 to 2021 and analysis of screening changes in the past 30 years

作　　者：姜舟 赖婷 李晓丽 杨柳 JIANG Zhoul;LAI Ting;LI Xiaolil;YANG Liu(Department of Neonatal Screening,Chengdu Women's and Children's Central Hospital,School of Medicine,University of Electronic Science and Technology of China,Chengdu,Sichuan 611731,China;Department of Healthcare,Chengdu Women's and Children's Central Hospital,School of Medicine,University of Electronic Science and Technology of China,Chengdu,Sichuan 611731,China)

机构地区：[1]电子科技大学医学院附属妇女儿童医院·成都市妇女儿童中心医院新生儿疾病筛查科,四川成都611731 [2]电子科技大学医学院附属妇女儿童医院·成都市妇女儿童中心医院保健部,四川成都611731

出　　处：《中国优生与遗传杂志》2023年第5期885-890,共6页Chinese Journal of Birth Health & Heredity

基　　金：重大出生缺陷大数据基于个体的孕前、产前、生后一体化数据采集与应用研究(2019YFC1005104)。

摘　　要：目的 评价2011—2021年成都市新生儿疾病筛查中心新生儿遗传代谢病(IMD)筛查工作质量,总结近30年筛查工作经验,分析苯丙酮尿症(PKU)及先天性甲状腺功能减低症(CH)在成都地区的流行情况,为成都市制定出生缺陷防控政策提供依据。方法 通过成都市新生儿疾病筛查数据库收集2011—2021年成都市CH和PKU的筛查率、可疑阳性召回率、不合格血片补采率、检验前血片周转不及时率等筛查质控指标,及PKU、CH的发病率、治疗、随访情况,与1992—2010年相关情况进行比较。结果 2011—2021年成都市共筛查2425987例新生儿,筛查率从2011年的92.41%逐渐上升到2021年的99.52%。初筛阳性率从0.92%逐渐上升至1.58%;初筛阳性召回率除了2012年和2013年外均稳定在95%以上,2021年为98.44%。血片不合格率从0.27%逐渐下降至0.03%。不合格血片重采率从78.48%逐渐上升至97.78%,检验前血片周转不及时率从1.29%逐渐下降至0.03%。确诊PKU/BH4 87例,发病率:1/27885;确诊CH 1169例,发病率:1/2075。与1992—2010年相比:筛查率、初筛阳性率、初筛阳性召回率,PKU筛查的阳性预计值等质控指标均有明显提升,差异有统计学意义(P<0.05),CH筛查的阳性预计值较前下降,差异有统计学意义(P<0.05)。PKU发病率有下降,差异无统计学意义(P>0.05);CH发病率有上升,差异有统计学意义(P<0.05)。结论 成都市筛查工作质量近10年有明显提高,筛查关键指标均稳定在较高水平。CH发病率与全国平均水平相近,PKU发病率低于全国平均水平。建议结合近十年筛查情况对TSH切值进行科学的调整,以降低CH筛查假阳性;未来可考虑适当增加免费筛查的IMD病种,进一步提高人口素质。Objective To evaluate the quality of inherited metabolic diseases(IMD)screening in Chengdu Screening Center from 2011 to 2021,summarize the screening experience in the past 30 years,and analyze the prevalence of phenylketonuria(PKU)and congenital hypothyroidism(CH)in Chengdu,providing the basis for formulating birth defect prevention and control policies in Chengdu.Methods The screening and quality control indicators during 2011-2021,such as the screening rate,suspicious positive recall rate,unqualified blood tablet supplement rate,and the rate of late turnover of blood tablet before testing,as well as the incidence,treatment and follow-up of PKU and CH were collected from Chengdu neonatal disease screening database,compare the above with the period 1992-2010.Results A total of 2425987 newborns were screened and the rate rised from 92.41%in 2011 to 99.52%in 2021,positive rate of initial screening rised from 0.92%to 1.58%.Except in 2012 and 2013,the recall rate of positive initial screening was stable above 95%,98.44%in 2021.The rate of unqualified blood tablets dropped from 0.27%to 0.03%.The resample rate of unqualified blood slides rised from 78.48%to 97.78%.Untimely turnover rate of blood film before examination dropped from 1.29%to 0.03%.There were 87 cases of PKU/BH4 confirmed(1/27885),and 1169 cases of CH were confirmed(1/2075).Compared with 1992 to 2010:Screening rate,positive rate of initial screening,positive recall rate of initial screening,positive predicted value of PKU screening were significantly increased,the difference was statistically significant(P<0.05).The predicted positive value of CH screening was significantly lower than before(P<0.05).The incidence of PKU wasn't significantly lower than before(P>0.05).The incidence of CH was significantly higher than before(P<0.05).Conclusion The quality of screening work in Chengdu has been improved sigimproved significantly in the past 10 years,and the key indicators of screening are stable at a high level.The incidence of CH was close to the national av

关 键 词：新生儿疾病筛查 遗传代谢病 先天性甲状腺功能减低症 苯丙酮尿症 

分 类 号：R722.11[医药卫生—儿科]