江西省新生儿遗传代谢病筛查20年回顾与展望

发布时间：2018-06-08 15:24

本文选题：出生缺陷 + 新生儿筛查　；参考：《南昌大学》2017年硕士论文

【摘要】：新生儿遗传代谢病筛查是指医疗保健机构在新生儿群体中,运用快速、简便、敏感的检验方法,对一些危害儿童生命、导致儿童体格及智能发育障碍的先天性、遗传性疾病进行群体筛检,目的是在患儿出现疾病临床症状之前,在其体内生化、激素水平已有明显变化时就作出早期诊断,给予有效治疗,避免患儿机体各器官受不可逆性的损害,保障儿童正常的体格和智能发育的一项系统服务。新生儿遗传代谢病筛查是出生缺陷三级预防中的重要手段。江西省新生儿遗传代谢病筛查起步于1997年,筛查高苯丙氨酸血症和先天性甲状腺功能减退症。2002年起增加了葡萄糖-6-磷酸脱氢酶缺乏症的筛查,2011年起增加了先天性肾上腺皮质增生症的筛查。2015年起江西省新生儿遗传代谢病筛查中心引进MS-MS技术对新生儿进行40余种遗传代谢病的筛查。江西省新生儿遗传代谢病筛查经历20年的探索发展,筛查率、筛查病种、筛查方法均有了很大进步,筛查效益良好,能够有效降低江西省出生缺陷发病率,提高江西省出生人口素质,降低遗传代谢病致死率、致残率,已经成为了江西省出生缺陷三级预防中的主要手段之一。本文主要就江西省新生儿遗传代谢性疾病筛查20年回顾与展望进行综述总结。
[Abstract]:Neonatal genetic metabolic disease screening refers to the use of rapid, simple and sensitive testing methods in the neonatal population by medical and health care institutions, which are responsible for congenital disorders of physical and mental development that endanger children's lives and lead to children's physical and mental development. Genetic diseases are screened in groups with the aim of making early diagnosis and effective treatment before the children develop clinical symptoms and when their body biochemical and hormone levels have changed significantly. To avoid irreversibility damage to the organs of the child and to protect the normal physical and intellectual development of children a systematic service. Neonatal genetic metabolic disease screening is an important means of three-level prevention of birth defects. Screening for neonatal genetic metabolic diseases in Jiangxi Province started in 1997. Screening for hyperphenylalanemia and congenital hypothyroidism. Increased screening for glucose-6-phosphate dehydrogenase deficiency in 2002 and congenital adrenocortical hyperplasia since 2011. Newborn in Jiangxi Province since 2015 MS-MS was used to screen more than 40 kinds of genetic metabolic diseases in neonates. In Jiangxi Province, after 20 years of exploration and development, the screening rate, the screening methods and the screening methods have made great progress, and the screening efficiency is good, which can effectively reduce the incidence of birth defects in Jiangxi Province. Improving the quality of the birth population in Jiangxi Province, reducing the mortality rate and disability rate of genetic metabolic diseases has become one of the main measures in the three-level prevention of birth defects in Jiangxi Province. In this paper, 20 years review and prospect of neonatal genetic metabolic disease screening in Jiangxi Province were reviewed.
【学位授予单位】：南昌大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R722.1

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