2014～2017年深圳宝安区新生儿先天性甲状腺功能减低症和苯丙酮尿症筛查结果分析  

Analysis of screening results of congenital hypothyroidism and phenylketonuria in shenzhen baoan area from 2014 to 2017

作　　者：高丹 刘典浪 黎国 陈裕萍 彭娟丽 GAO Dan;LIU Dian-lang;LI Guo;CHEN Yu-ping;PENG Juan-li(Shenzhen Baoan District Fuyong People＇s Hospital 1.Clinical Laboratory;Department of Pediatrics;Department of Obstetrics and Gynecology, Guangdong 518103)

机构地区：[1]深圳市宝安区福永人民医院检验科,深圳518103 [2]深圳市宝安区福永人民医院儿科,深圳518103 [3]深圳市宝安区福永人民医院妇产科,深圳518103

出　　处：《中国优生与遗传杂志》2018年第4期57-59,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的了解2014~2017年深圳市宝安区新生儿先天性甲状腺功能减低症(congenital?hypothyroidism,CH)和苯丙酮尿症(phenylketonuria,PKU)筛查率和发病率情况,为预防和早期诊断CH和PKU提供科学依据。方法收集2014年2月~2017年10月在深圳市宝安区福永人民医院产科分娩出生的活产新生儿27?158名,采集足跟末梢血制成滤纸干血片,分别采用化学荧光法和时间分辨荧光免疫法检测滤纸干血片中促甲状腺素(TSH)和苯丙氨酸(Phe)浓度,并对筛查结果进行分析。结果 2014~2017年深圳宝安区活产新生儿21?758名,进行新生儿疾病筛查人数19?524名,筛查率为89.73%(19?524/21?758),其中2014,2015,2016和2017年筛查率分别为82.55%(4396/5325),88.02%(4379/4975),92.22%(5706/6187)和95.67%(5043/5271),筛查率呈逐年上升趋势,但不同年份之间差异均无统计学意义(χ2=0.214~0.528,P>0.05)。CH初筛阳性143例,召回120例,确诊8例,CH发病率为0.410‰(8/19?524),PKU初筛阳性175例,召回142例,确诊4例,PKU发病率为0.205‰(4/21?758)。结论深圳宝安区新生儿疾病筛查率呈逐年上升趋势,且CK和PKU有一定的发病率。因此,加强新生儿疾病筛查,有助于CH和PKU患儿早期发现,并及时采取干预性治疗措施,对降低儿童智力障碍性疾病的发生具有重要意义。Objective：To understand the shenzhen baoan district from 2014 to 2017 in neonatal congenital thyroid function to reduce disease（congenital hypothyroidism,CH）and phenyl acetone urine disease（phenylketonuria,PKU）screening rate and the incidence situation,to provide a scientific basis for prevention and early diagnosis of CH and PKU. Methods：From February 2014 to October 2017 in shenzhen baoan district fuyong people′s hospital obstetric delivery live-birth newborns born 27 158,collecting sufficient with peripheral blood made from dried blood piece of filter paper,respectively using chemical fluorescence and time-resolved fluorescence immunoassay method to detect dry blood film filter presses thyroxine（TSH）and phenylalanine（Phe）concentration,and the screening results are analyzed. Results：From 2014 to 2017 in shenzhen baoan district 21 758 live births newborn,number 15 367 for neonatal disease screening,screening rate was 89.73%（19 524/21 758）,the screening rate of 2014,2015,2016 and 2017 was 82.55%（4396/5325）,88.02%（4379/4975）,92.22%（5706/6187）and 95.67%（5043/5271）Respectively,there is an upward trend in the screening rate,but there were no statistically significant difference between different years（χ^2=0.214-0.528,P〉0.05）. There were 143 cases of initial screening,120 cases were recalled,3 cases were diagnosed,and the incidence of CH was 0.154‰（3/21 758）,175 cases of initial screening of PKU,142 cases were recalled,4 cases were diagnosed,and the incidence of PKU was 0.205‰（4/21 758）. Conclusion：the screening rate of neonatal disease in baoan district of shenzhen is increasing year by year,and there is a certain incidence of CK and PKU. Therefore,strengthen the screening examination of diseases of newborn babies,contribute to CH and PKU children with early detection,and interventional treatment measures in time,to reduce the occurrence of mental disorder in children is of great significance.

关 键 词：新生儿 先天性甲状腺功能低下 苯丙酮尿症 发病率 分析 

分 类 号：R581.2[医药卫生—内分泌]