朝阳地区新生儿苯丙酮尿症和先天性甲状腺功能低下症筛查结果分析  

Analysis of screening results of neonatal phenylketonuria and congenital hypothyroidism in Chaoyang area

作　　者：刁颖 毛久忠 于春宇 周晗 DIAO Ying;MAO Jiu-zhong;YU Chun-yu(New Screening Center of Chaoyang Maternal and Child Health and Family Planning Service Center,Chaoyang 122000,China)

机构地区：[1]朝阳市妇幼保健计划生育服务中心新筛中心,122000

出　　处：《中国实用医药》2021年第16期177-180,共4页China Practical Medicine

摘　　要：目的调查分析朝阳地区2010~2019年新生儿苯丙酮尿症(PKU)和先天性甲状腺功能低下症(CH)筛查结果,探讨朝阳地区两病的发病情况,以及评估新生儿疾病筛查对早期预防的作用。方法选取2010~2019年在朝阳地区出生并进行新生儿疾病筛查的新生儿共261233例,取新生儿血液制作标本,采用酶免疫荧光分析法、时间分辨荧光免疫分析法测定滤纸干血片中的苯丙氨酸(Phe)、促甲状腺激素(TSH)的含量,疑似阳性则需进一步确诊。分析2010~2019年朝阳地区新生儿疾病筛查的基本情况、PKU和CH筛查结果,并比较农村户口和城镇户口PKU和CH的发病情况。结果2010~2019年总活产数为263263例,筛查数为261233例,筛查率为99.23%。2010~2019年每年筛查率基本保持稳定,均在99%左右。2010~2019年新生儿筛查数为261233例,检查出PKU患儿51例,总发病率为0.02%(51/261233);检查出CH患儿70例,总发病率为0.03%(70/261233)。农村户口与城镇户口PKU发病率比较,差异无统计学意义(χ^(2)=0.385,P=0.535>0.05);农村户口CH发病率发病率为0.03%(59/189648)高于城镇户口的0.02%(11/71585),差异有统计学意义(χ^(2)=4.809,P=0.028<0.05)。结论新生儿疾病筛查作为预防出生缺陷的一个重要手段,加强新生儿疾病筛查的普及,具有重要的社会意义。Objective To investigate and analyze the screening results of neonatal phenylketonuria(PKU)and congenital hypothyroidism(CH)in Chaoyang area from 2010 to 2019,to explore the incidence of these two diseases,and to evaluate the role of early prevention of neonatal disease screening.Methods A total of 261233 newborns born in Chaoyang area and screened for neonatal diseases in 2010-2019 were selected.The blood of the newborn was taken to prepare specimens,and the content of phenylalanine(Phe)and thyroid-stimulating hormone(TSH)in the dried blood sheet of filter paper was determined by enzyme immunofluorescence analysis method and time-resolved fluorescence immunoassay method.If it was suspected to be positive,further diagnosis was required.The basic situation of neonatal disease screening,PKU and CH screening results in Chaoyang area in 2010-2019 were analyzed,and the incidence of PKU and CH in rural and urban residents was compared.Results In 2010-2019,the total number of live births was 263263,the number of screening was 261233,and the screening rate was 99.23%.In 2010-2019,the annual screening rate remained stable,about 99%.In 2010-2019,261233 newborns were screened,and 51 newborns were diagnosed with PKU,with a total incidence rate of 0.02%(51/261233).70 newborns with CH were detected,with a total incidence rate of 0.03%(70/261233).There was no statistically significant difference in incidence of PKU between rural and urban residents(χ^(2)=0.385,P=0.535>0.05).The incidence of CH of rural residents 0.03%(59/189648)was higher than 0.02%(11/71585)of urban residents,and the difference was statistically significant(χ^(2)=4.809,P=0.028<0.05).Conclusion Neonatal disease screening is an important means to prevent birth defects,and strengthening the popularization of neonatal disease screening has important social significance.

关 键 词：新生儿疾病筛查 苯丙酮尿症 先天性甲状腺功能低下症 

分 类 号：R722.1[医药卫生—儿科]