广西地区新生儿疾病筛查结果回顾性分析  

Retrospective analysis of newborn disease screening results in Guangxi area

作　　者：李旺 黄莹 谢意 何春雨 陈少科 林彩娟 林飞 俸诗瀚 耿国兴 罗超 

机构地区：[1]广西妇产医院遗传代谢中心实验室,广西南宁530000

出　　处：《国际检验医学杂志》2014年第5期567-568,共2页International Journal of Laboratory Medicine

基　　金：国家自然科学基金(81260126);广西自然科学基金(2012GXNSFAA053174)

摘　　要：目的：了解2009～2012年广西地区新生儿疾病筛查情况及确诊率。方法通过检测促甲状腺素（TSH）筛查甲状腺功能减低症（CH）、苯丙氨酸（PHe）筛查苯丙酮尿症（PKU）、17-羟孕酮（17-OHP）筛查先天性肾上腺皮质增生症（CAH）、葡萄糖-6-磷酸脱氢酶（G-6-PD）筛查G-6-PD缺乏症，对初次筛查阳性的患儿进行及时召回并确诊。结果2009年1月至2012年12月广西新生儿疾病筛查中心合作单位的新生儿筛查率呈逐年上升趋势且CH、PKU、CAH、G-6-PD初次筛查阳性患儿召回率及确诊率存在差异。结论新生儿筛查可以在早期发现CH、PKU、CAH、G-6-PD缺乏症患儿，对其早期进行干预可以防止其发病从而降低对其智力及生长发育的影响，对提高人口素质有重要意义。Objective To understand the screening situation and the confirmed diagnosis rate of newborn diseases in Guangxi ar-ea .Methods By detecting thyrotropin （TSH） for screening congenital hypothyroidism （CH） ,phenylalanine （PHe） for screening phenylketonuria （PKU） ,17- hydroxyl progesterone （17-OHP） for screening congenital adrenal hyperplasia （CAH） ,glucose-6-phosphate dehydrogenase （G-6-PD） for screening glucose-6-phosphate dehydrogenase（G-6-PD） deficiency ,and all the screened pos-itive cases were timely called back for making the confirmed diagnosis .Results The neonatal screening rate in the cooperation units of the Guangxi Newborn Disease Screening Center from January 2009 to December 2012 showed the rising trend year by year .Mo-reover the called back rates and the confirmed diagnosis rates of CH ,PKU ,CAH ,G-6-PD had difference among the children with the initial positive screening results .Conclusion The newborn screening can early find the children patients with CH ,PKU ,CAH and G-6-PD deficiency and conducting the early intervention can prevent their onset so as to reduce their impact on the intelligence and the growth and development ,which has the important significance for improving the quality of the population .

关 键 词：先天性甲状腺功能减退症 苯丙酮尿症 肾上腺增生  先天性 葡糖磷酸脱氢酶缺乏 新生儿筛查 

分 类 号：R722.1[医药卫生—儿科]