2002-2009年浙江省温州市龙湾区新生儿疾病筛查分析

目的 分析2002-2009年浙江省温州市龙湾区新生儿疾病筛查情况.方法 对2002-2009年浙江省温州市龙湾区出生的46 202名新生儿进行新生儿疾病筛查,在出生72 h,充分母乳喂养后采集足跟血检测血清促甲状腺素（TSH）、苯丙氨酸水平,筛查结果 阳性者及时进行复查确诊.结果 46 202名新生儿中共检出阳性23例（0.05%）,其中先天性甲状腺功能低下症筛查阳性22例,发病率为1/2 100;苯丙酮尿症筛查阳性1例,发病率为1/46 202.确诊患者均由浙江省新生儿疾病筛查中心专家治疗随访.结论 新生儿疾病筛查是先天性甲状腺功能低下症、苯丙酮尿症早期诊断的有效措施之一,可有效防止患儿智力和体格发育低下以及其他器官功能的损害.

A retrospective analysis of newborn disease screening in Wenzhou Longwan from 2002-2009

Objective A retrospective analysis of the situation of newborn disease screening in Longwan Wenzhou from 2002 to 2009 was conducted.Methods The restdts of newborn diaease screening of 46 202 neonatus in Longwan district of Wenzhou between 2002 and 2009 were analyzed.The neonatns were screened within 72 hours after birth for congenital hypothyroidism(CH),phenylketonuria(PKU)by measuring thyroid-simulating hormone (TSH)and phenylalanine concentration on dried blood spots on filter paper cards.Neonatus weYe recalled after screened positive and the diagnosis was made by testing serum concentration.Results A total of 46 202 newborns were screened from 2002 to 2009,and 23 cases was positive and the total positive rate was 0.05%,22 cases were confirmed positive for CH.with an incidenee of 1/2 100.1 case was confirmed positive for PKU,with an incidence of 1/46 202.All patients were followed-up by experts of newborn disease screening centre of Zhejiang Province.Conclusion The results of this study confirm that newborn discease sereaning was one of the effective methods of early diagnosis of congenital CH and PKU,which could effectively prevent development low of intelligence or physique,and other organs impairment.