大连地区2014年-2017年新生儿疾病筛查结果回顾分析

Analysis of neonatal disease screening results in Dalian during from 2014 to 2017

目的分析大连市2014~2017年252 588例新生儿先天性甲状腺功能减低症和苯丙酮尿症的筛查结果。方法用时间分辨荧光免疫法检测血斑中促甲状腺激素含量,用免疫荧光法检测血斑中苯丙氨酸的含量。结果大连市2014~2017年共252 588例新生儿进行新生儿疾病筛查,共筛查出先天性甲状腺功能减低症患儿50例,其发病率为1:5051(0.1768‰);筛查出高TSH血症患儿59例,发病率为1:4281(0.2336‰);筛查出苯丙酮尿症患儿58例,其发病率为1:4355(0.2296‰)。结论大连市2014-2017年新生儿疾病筛查平均筛查率为99.20%,呈逐年上升趋势。通过新生儿筛查可以对先天性甲状腺功能减低症和苯丙酮尿症患儿进行早期诊断和治疗,降低对新生儿体质和智力发育的损伤,提高出生人口的素质。

Objective：To analysis the result of congenital hypothyroidism and phenylketonuria for 252 588 cases of neonatal in Dalian City from 2014 to 2017. Methods：Time-resolved nuoroimmunoassay was used to detect blood thyrotropin concentration. Immunofluoresent assay was used to detect blood phenylalanine concentration. Results：In Dalian,252 588 cases of newborns were screened for neonatal disease screening from 2014 to 2017. Among the 252 588 infants,50 infants were diagnosed with congenital hypothyroidism,with an incidence rate of 1：5051（0.1768‰）,59 infants were diagnosed with hyperthyrotropinemia,with an incidence rate of 1：4281（0.2336‰）,and 58 cases were diagnosed with neonatal phenylketonuria,with an incidence rate of 1：4355（0.2296‰）. Conclusion：The average screening rate was 99.20% from 2014 to 2017. The screening rate was increased year by year. The neonatal screening is conducive to the early diagnosis and early treatment for neonatal congenital hypothyroidism and phenylketonuria,reduce the damage in neonatal physical and mental development,and improve the quality of birth population.