广州市新生儿筛查10年回顾性分析  

Review of Neonatal Screening for Ten Years in Guangzhou.

作　　者：马燮琴[1] 宋诚燕[1] 林本蘅[1] 汤雪薇[1] 李小雅 江剑辉 孙文英 廖宇龙 

机构地区：[1]广州市妇婴医院,5101802 [2]广州市新生儿筛查中心

出　　处：《中国儿童保健杂志》1999年第4期217-218,共2页Chinese Journal of Child Health Care

摘　　要：目的　总结近10 年来广州市新生儿筛查先天性甲状腺功能低下( CH) 、苯丙酮尿症( PKU) 及葡萄糖6磷酸脱氢酶( G6PD) 缺陷的结果。　方法　标本采用出生72 小时后新生儿足跟血滤纸片。CH 筛查测定促甲状腺激素( TSH) ,PKU 筛查测定血苯丙氨酸,G6PD 缺陷筛查采用荧光斑点法定性测定G6PD 活性。　结果　近10 年来共筛查203 215 例新生儿。以1998 年统计,全市新生儿筛查覆盖率为46 .5 % ,检出CH 43 例,发病率为1/4 726 ;PKU 7 例,发病率为1/29 030 ;G6PD 缺陷总检出率为3 .7 % ( 男5 .0 % ;女2 .3 % ) 。　结论　新生儿筛查是儿童保健工作的重要组成部分,仍需进一步提高筛查覆盖率、检出率。Objective To summarize the results of neonatal screening for congenital hypothyroidism(CH),phenylketonuria(PKU) and glucose 6 phosphate dehydrogenase (G 6 PD)deficiency for ten years in Guangzhou. Methods Blood spot samples on filter paper were collected with heel prick blood of newborn 72 hours postnatally.Determining TSH for CH screening;measuring phenylalanine for PKU screening; G 6 PD activity was measured qualitively by fluorescent spot test. Results 203 215 babies were Screened during 10year period. Coverage of neonatal screening in Guangzhou were 46.5% in 1998.43 cases of CH were detected with the incidence of 1/4 726; 7 cases of PKU were detected with incidence of 1/29 030;the total detected rate of G 6 PD deficiency was 3.7%(male 5.0%; female 2.3%). Conclusions Neonatal screening is very important part for the child health care,but the coverage rate、detected rate、recall rate and treatment rate of neonatal screening were still elevated.

关 键 词：新生儿 苯丙酮尿症 甲状腺机能低下 G-6-PD缺陷 

分 类 号：R722.01[医药卫生—儿科]