天津市新生儿疾病筛查47万例结果分析

目的:了解天津市新生儿先天性甲状腺功能低下症(CH)和苯丙酮尿症(PKU)的发病率和筛查现状。方法:新生儿出生72 h后采集足跟血滴于滤纸片,应用时间分辨荧光免疫方法检测干血片的促甲状腺激素(TSH)的水平,采用荧光法检测苯丙氨酸(phe)含量。结果:2005～2010年间,天津市新生儿疾病筛查中心共筛查新生儿469 544例,近两年筛查覆盖率接近100%,共筛查出CH阳性患儿210例,CH的发病率为1/2 236,农村地区略高于城市(P<0.05),其中塘沽区和大港区CH的发病率明显高于市区平均水平(P<0.05);筛出PKU阳性患儿59例,其中确诊1例四氢生物蝶呤缺乏症患儿,PKU的发病率为1/7 161,两病的发病率均高于全国平均水平。结论:新生儿疾病筛查是减少出生缺陷的重要手段,是预防保健的重要组成部分;通过筛查和早期治疗,可使患儿智力达到正常水平,减少弱智儿童的发病率;有效开展新生儿疾病筛查,对提高人口素质起着积极的推动作用。

Analysis on the screening results of 470000 neonates in Tianjin city

Objective: To understand the incidences of neonatal congenital hypothyroidism(CH) and phenylketonuria(PKU) and the current situation of neonatal screening. Methods: At 72 hours after birth,the samples of heel food of the neonates were obtained,then time-resolved fluoroimmunoassy was used to detect the level of thyroid stimulating hormone(TSH),fluorescence method was used to detect the content of phenylalanine(phe). Results: From 2005 to 2010,a total of 569 544 neonates were screened in Tianjin neonatal screening center,the coverage rate of screening in past two years was near to 100%,210 neonates with CH were screened out,the prevalence of CH was 1/2 236,the incidence of CH in rural area was higher than that in urban area(P<0.05),and the incidences of CH in Tanggu District and Dagang District were significantly higher than the average level of urban area(P<0.05).Fifty-nine neonates with PKU were screened out,one neonate was diagnosed as tetrahydrobiopterin deficiency definitely,the prevalence of PKU was 1/7 161,the incidences of the two diseases were higher than the national levels. Conclusion: Neonatal screening is an important method to reduce birth defects and an important component of preventive health care;the intelligence of the neonates can achieve normal level and the incidence of children with weak intelligence can be reduced by screening and early treatment;carrying out effective neonatal screening plays an active promoting effect for improving the quality of population.