北京市350万例新生儿疾病筛查工作质量分析  

Quality analysis of neonatal diseases screening in 3.5 million neonates in Beijing

作　　者：赵金琦[1] 马志军[2] 杨海河[1] 杨楠[1] 宫丽霏[1] 唐玥 李璐璐 孔元原[1] ZHAO Jinqi;MA Zhijun;YANG Haihe;YANG Nan;GONG Lifei;TANG Yue;LI Lulu;KONG Yuanyuan(Department of Neonatal Diseases Screening,Beijing Obstetrics and Gynecology Hospital,Capital Medical University.Beijing Maternal and Child Health Care Hospital,Beijing 100026,China;Laboratory of Neonatal Screening,Beijing Obstetrics and Gynecology Hospital,Capital Medical University.Beijing Maternal and Child Health Care Hospital,Beijing 100026,China)

机构地区：[1]首都医科大学附属北京妇产医院/北京妇幼保健院新生儿疾病筛查科,北京100026 [2]首都医科大学附属北京妇产医院/北京妇幼保健院新筛实验室,北京100026

出　　处：《中国妇幼健康研究》2023年第2期104-109,共6页Chinese Journal of Woman and Child Health Research

摘　　要：目的分析北京市新生儿疾病筛查结果,探讨先天性甲状腺功能减低症(CH)及苯丙酮尿症(PKU)的发病和治疗时效。方法选取1989—2017年北京市出生的350万例活产儿为研究对象,顺序采用放射免疫分析法(RIA)(1989—1995年)、ELISA(1996—2003年)及时间分辨荧光免疫法(DELFIA)(2004—2017年)检测促甲状腺激素(TSH)含量;顺序采用Guthrie细菌抑制法(BIA)(1992—2003年)及荧光法(2004—2017年)检测苯丙氨酸(Phe)含量。结果1989—2017年,共筛查新生儿3507643名,筛查率由1989年的14.0%提高到2017年100.0%(χ^(2)_(趋势)=15.131,P<0.01);CH阳性召回率由1989年的80.8%上升至2017年的96.7%(χ^(2)_(趋势)=18.012,P<0.01),PKU阳性召回率由1992年的54.2%上升至2016年的97.8%(χ^(2)_(趋势)=19.257,P<0.01);共确诊CH 1472例,发病率1/2383;PKU 495例,发病率1/7086;2012—2017年CH患儿在半月内确诊比例由0提高至11.0%以上(χ^(2)_(趋势)=4.169,P<0.05),同期患儿生后治疗时间在14~20天的比例由0提高至44.5%(χ^(2)_(趋势)=4.391,P<0.05);2013—2017年PKU患儿在半月内确诊比例由0提高至37.1%(χ^(2)_(趋势)=3.792,P=0.05),其他时间确诊比例差异无统计学意义(P>0.05)。结论北京新生儿疾病筛查具有较好的阳性召回率和早期诊治率,为先天性甲状腺功能减低症及苯丙酮尿症的防治工作奠定了基础。Objective To analyze the screening results of neonatal diseases in Beijing,and explore the incidence and treatment time and efficacy of congenital hypothyroidism(CH)and phenylketonuria(PKU).Methods The 3.5 million live neonates born in Beijing between 1989 and 2017 were selected as the study subjects.Radioimmunoassay(RIA)(1989—1995),ELISA(1996—2003),and time-resolved fluorescence immunoassay(DELFIA)(2004—2017)were used to measure the level of thyroid stimulating hormone(TSH).The level of phenylalanine(Phe)was determined by Guthrie bacterial inhibition assays(BIA)(1992—2003)and fluorescence(2004—2017).Results In total,3507643 newborns were screened between 1989 and 2017.The screening rate increased from 14.0%in 1989 to 100%in 2017(χ^(2)_(trend)=15.131,P<0.01).The positive recall rate of CH increased from 80.8%in 1989 to 96.7%in 2017(χ^(2)_(trend)=18.012,P<0.01),and the positive recall rate of PKU increased from 54.2%in 1992 to 97.8%in 2016(χ^(2)_(trend)=19.257,P<0.01).A total of 1472 CH cases were diagnosed and the incidence was 1/2383,whereas,495 cases of PKU were diagnosed and the incidence was 1/7086.The proportion of CH patients diagnosed in the first half of the month increased from 0 to 11.0%between 2012 and 2017(χ^(2)_(trend)=4.169,P<0.05),and the ratio of the postnatal treatment time of children during the same period for 14-20 days increased from 0 to 44.5%(χ^(2)_(trend)=4.391,P<0.05).The proportion of PKU patients diagnosed in the first half of the month increased from 0 to 37.1%between 2013 to 2017(χ^(2)_(trend)=3.792,P=0.05).There was no significant difference in the proportion of diagnosis at other time(P>0.05).Conclusion There are high positive recall rate and early diagnosis and treatment rate in the neonatal disease screening in Beijing.It lays a foundation for the prevention and treatment of congenital hypothyroidism and phenylketonuria.

关 键 词：新生儿疾病筛查 先天性甲状腺功能减低症 苯丙酮尿症 质量 发病率 治疗 

分 类 号：R174.6[医药卫生—妇幼卫生保健]