• 中国科学论文统计源期刊
  • 中国科技核心期刊
  • 美国化学文摘(CA)来源期刊
  • 日本科学技术振兴机构数据库(JST)
临床输血与检验

临床输血与检验 ›› 2016, Vol. 18 ›› Issue (6): 571-573.DOI: 10.3969/j.issn.1671-2587.2016.06.020

• 临床检验 • 上一篇    下一篇

广东省汕头市新生儿遗传代谢疾病筛查结果分析*

张延玮,谢洁娜,郭书邑   

  1. 515041 广东省汕头市妇幼保健院,汕头市新生儿遗传代谢疾病筛查中心
  • 收稿日期:2016-09-02 出版日期:2016-12-20 发布日期:2016-12-23
  • 作者简介:张延玮（1975-）,女,广东湛江人,副主任技师,学士,主要从事临床检验工作,（Tel）13623041722（E-mail）doris7171@163.com。
  • 基金资助:
    *本课题受2015年度汕头市医疗科技计划项目（No.0022240630818017）资助

Anaylsis of Newborn Metabolic Disease Screening in Shantou City of Guangdong Province from 2012 to 2015

ZHANG Yan-wei, XIE Jie-na, GUOShu-yi   

  1. Shantou Women and Children's Hospital,Shantou Newborn Screening Center,Shantou,Guangdong,515041
  • Received:2016-09-02 Online:2016-12-20 Published:2016-12-23

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摘要： 目的了解汕头市新生儿先天性甲状腺功能减低症（CH）、苯丙酮尿症（PKU）和葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的筛查情况及发病率。方法对汕头市2012年5月~2015年12月已进行新生儿疾病筛查的104079例结果进行分析。结果汕头市CH发病率为0.02%,PKU发病率为0.003%,G6PD发病率为0.06%。4年来的平均筛查率为30.6%,呈逐年上升趋势。结论新生儿疾病筛查是CH、PKU和G6PG缺乏症早期诊断的有效措施,尽早干预可避免发生体格和智能发育障碍,对提高我国人口素质具有深远意义。

关键词: 新生儿疾病筛查, 先天性甲状腺功能减低症, 苯丙酮尿症, 葡萄糖6-磷酸脱氢酶缺乏症, 召回

Abstract: ObjectiveTo Understand the incidence rate of the newborn metabolic disease and its screening condition. MethodsA retrospective analysis of newborn metabolic disease screening in Shantou for four years was done. Results25 cases were confirmed positive for congenital hypothyroidism （CH）,and incidence rate was 1/4 163. 3 cases were confirmed positive for phenylketonuria （PKU）,and incidence rate was 1/34693. 661 cases were diagnosed with Glucose-6-phosphate dehydrogenase（G6PD） deficiency,and its incidence rate was 1/158. The average screening rate of newborn metabolic disease was 30.6%,and the screen rate was going up year by year. ConclusionThe results of this study suggest the newborn screening program is beneficial for early detection and treatment of CH,PKU and G6PD deficiency. It can avoid physique and intelligent development defect of the newborns; and it also is a significance to improve population quality in our country.

Key words: Newborn, screening, Congenital, hypothyroidism, Phenylketonuria, Glucose-6-phosphate, Dehydrogenase, deficiency, Recall

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