1998-2004年深圳市新生儿疾病筛查的分析及随访  

The Studies of Neonatal Screening in Shenzhen City.

作　　者：刘一心[1] 黄晓春[1] 陈斌[1] 黄谨[1] 王虹[1] 林艳[1] 伍小秋[1] 

机构地区：[1]深圳市妇幼保健院深圳市新生儿疾病筛查中心,广东518038

出　　处：《中国自然医学杂志》2005年第4期296-298,共3页Chinese Journal of Natural Medicine

摘　　要：目的总结分析深圳市新生儿疾病筛查情况。方法建立深圳市所有产科医院的筛查网络,以非选择性新生儿为对象,在出生72 h,充分母乳后采足跟血,检测促甲状腺激素(TSH)、苯丙氨酸、半乳糖含量和红细胞葡萄糖6磷酸脱氢酶(G-6-PD)活性,筛查覆盖率97.07%。筛查阳性者,以血清标本复查确诊。结果6年多共筛查新生儿325 498人,其中确诊为先天性甲状腺功能减低症(CH)96人,苯丙酮尿症(PKU)12人,半乳糖血症1人,G-6-PD缺乏症1082人。经早期诊断治疗,患儿的智能和体格等发育无明显异常。结论新生儿疾病筛查是CH、PKU、G-6-PD缺乏症和半乳糖血症早期诊断的有效措施之一,采取早期治疗能有效地防止患儿的智力和体格发育低下以及其他器官功能的损害。Objective To understand the current status of neonatal disease, Methods The neonatal disease screening network was established in all obstetric hospitals in Shenzhen, and screening in Shenzhen.The neonates were screened within 72 hours after birth for congenital hypothyroidism （CH）, phenylketonuria （PKU）, galactosemia and glucose-6-phosphate dehydrogenase （G-6-PD）deficiency by measuring thyroid-simulating hormone （TSH） of whole blood saturated filter paper disks with enzyme-linked immtmoassy, measuring phenylalanine, total galactose and G-6-PD activity of whole blood saturated filter paper disks with fluorescence analytical method using the Astoria-Pacific spotcheck Analyzer.The critical value of TSH〉10mlU/ml, phenylalanine≥4 mg/dl, total galactose 〉 10 mg/dl and G-6-PD activity 〈 40μM NADPH. The diagnosis was by measuring senun concentration. Results A total 325461 neonates were screened in the past 6 years. The screening coverage rate was 97.07%. 96 cases were confirmed to by CH, and the incidence rate was 1/3391.12 cases was confirmed to he PKU, the incidence rate was 1/27 125.1 case was confirmed to be galactosemia, with incidence of 1/157 645.1082 cases were confirmed to be G-6-PD deficiency, with incidence of 1/145. Through earlier diagnosis and treatment, there was no significant differences in physical and intellectual development among filed children. Conclusions The neonatal screening is effective approach of CH, PKU, galactosemia and G-6-PD deficiency confirmed early. Earlier diagnosis and treatment is of great help in disease prevention among neonates.

关 键 词：新生儿 先天性甲状腺功能减低症 苯丙酮尿症 半乳糖血症 红细胞葡萄糖6磷酸脱氢酶缺乏症 筛查 

分 类 号：R722.1[医药卫生—儿科] R596[医药卫生—临床医学]