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新生儿筛查即在新生儿期对某些引起严重危害的先天性代谢性疾病进行普查,目的在于早期检出,早期治疗,以免引起体格和智能发育障碍。该类疾病在新生儿期常缺乏特异性症状,一旦出现症状常已形成不可逆的损害,失去治疗良机,故需要在新生儿期以实验方法作出诊断。我院加一中儿童健康基金会新生儿筛查中心自1989年4月成立以来,先后对广州地区九问医院产科的新生儿进行先天性甲状腺功能减退(简称甲低),苯丙酮尿症(PKU)及红细胞葡萄糖-6-磷酸脱氢酶(G-6-PD)缺陷症的筛查。现初步报告如下。
Neonatal Screening In the neonatal period of some of the most serious metabolic hazards of congenital metabolic diseases survey, the purpose is early detection, early treatment, so as not to cause physical and mental retardation. These diseases often lack of specific symptoms in the neonatal period, once the symptoms often have formed irreversible damage, loss of therapeutic opportunity, it is necessary in the neonatal period to make an experimental diagnosis. In our hospital plus a new children’s health foundation neonatal screening center since its establishment in April 1989, has nine hospital in Guangzhou obstetric neonatal congenital hypothyroidism (hypothyroidism), phenylketonuria ( PKU) and erythrocyte glucose-6-phosphate dehydrogenase (G-6-PD) deficiency screening. The initial report is as follows.