本文選題：出生缺陷 + 新生兒篩查��； 參考：《南昌大學(xué)》2017年碩士論文

【摘要】：新生兒遺傳代謝病篩查是指醫(yī)療保健機(jī)構(gòu)在新生兒群體中,運(yùn)用快速、簡(jiǎn)便、敏感的檢驗(yàn)方法,對(duì)一些危害兒童生命、導(dǎo)致兒童體格及智能發(fā)育障礙的先天性、遺傳性疾病進(jìn)行群體篩檢,目的是在患兒出現(xiàn)疾病臨床癥狀之前,在其體內(nèi)生化、激素水平已有明顯變化時(shí)就作出早期診斷,給予有效治療,避免患兒機(jī)體各器官受不可逆性的損害,保障兒童正常的體格和智能發(fā)育的一項(xiàng)系統(tǒng)服務(wù)。新生兒遺傳代謝病篩查是出生缺陷三級(jí)預(yù)防中的重要手段。江西省新生兒遺傳代謝病篩查起步于1997年,篩查高苯丙氨酸血癥和先天性甲狀腺功能減退癥。2002年起增加了葡萄糖-6-磷酸脫氫酶缺乏癥的篩查,2011年起增加了先天性腎上腺皮質(zhì)增生癥的篩查。2015年起江西省新生兒遺傳代謝病篩查中心引進(jìn)MS-MS技術(shù)對(duì)新生兒進(jìn)行40余種遺傳代謝病的篩查。江西省新生兒遺傳代謝病篩查經(jīng)歷20年的探索發(fā)展,篩查率、篩查病種、篩查方法均有了很大進(jìn)步,篩查效益良好,能夠有效降低江西省出生缺陷發(fā)病率,提高江西省出生人口素質(zhì),降低遺傳代謝病致死率、致殘率,已經(jīng)成為了江西省出生缺陷三級(jí)預(yù)防中的主要手段之一。本文主要就江西省新生兒遺傳代謝性疾病篩查20年回顧與展望進(jìn)行綜述總結(jié)。
[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.
【學(xué)位授予單位】：南昌大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R722.1

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本文編號(hào)：1996265