摘要
目的实施新生儿疾病筛查项目,避免或减轻先天性遗传代谢病对患儿体格和智能发育的影响。方法采集出生72h后,正常哺乳的新生儿足跟血制成干血片,应用自动连续微量流动荧光分析技术、荧光酶免法、酶联免疫法、细菌抑制法等技术,筛查先天性代谢异常出生缺陷儿。结果自1998年～2008,新生儿疾病筛查项目在深圳实施十年中,筛查了782630例新生儿,筛查出出生缺陷儿5434例,其中苯丙酮尿症15例、高苯丙氨酸血症8例、四氢喋呤缺乏症4例、甲状腺功能减低症458例,高半乳糖血症12例、葡萄糖6磷酸脱氢酶缺乏症4937例。结论新生儿疾病筛查项目是优生优育、防止出生缺陷的重要措施之一,可以让出生缺陷儿得到早期诊断、早期治疗,有效地防止或减少智障残疾儿的发生,具有很好的社会效益和经济效益。
Objective The Newborn Mass-screening Program is to detect the inborn errors of treatable inherited metabolic diseases at an early stage in order to prevent and reduce physical and mental retardations. Method The method of this technique requires taking blood samples from the heel of neonates 72 hours after birth, while all babies were fully fed with milk beforehand. The Fluorometric Micro-continuous Flow System, Fluorescence enzyme immunoassay, Eenzyme immunoassay, and Bacterial inhibition assay techniques are used to for the examination of Inborn errors of metabolism. Results The results of testing the samples of 782630 newborn taken from 1998 to 2008 in Shenzhen reveals 5434 positive cases, which includes 15 cases of PKU, 8 cases of Hyperphenylalaninemia, 4 cases of Tetrahydrobiopterin deficiency, 458 cases of CH, 12 cases of Hypergalactosemia, and 4937 cases of G6PDD. Conclusion In conclusion, the Newborn Mass-screening Program has been shown to be an effective method to prevent the problem of child＇s mental retardation.
出处
《当代医学》
2009年第10期49-51,共3页
Contemporary Medicine
