南通地区近三年新生儿主要遗传代谢病筛查及诊断结果分析  

Analysis the results of screening and diagnosis of major inherited metabolic diseases among neonates in Nantong in recent three years

作　　者：严庆庆 徐爱萍[1] 张玲莉[1] 朱庆文[1] YAN Qing-qing;XU Ai-ping;ZHANG Ling-li;ZHU Qing-wen(Neonatal Screening Laboratory,Prenatal Diagnosis Center,Nantong Maternal and Child Health Care Hospital,Jiangsu Province,22600)

机构地区：[1]江苏省南通市妇幼保健院产前诊断中心新生儿筛查实验室,南通226000

出　　处：《中国优生与遗传杂志》2018年第10期83-85,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨南通市新生儿疾病筛查中心2014年10月～2017年9月间新生儿主要遗传代谢病发病情况,分析本地高苯丙氨酸血症(HPA)及先天性甲状腺功能减低症(CH)的筛查情况、诊疗随访效果。方法采用时间分辨免疫荧光法(DELFIA)检测滤纸干血斑中苯丙氨酸(Phe)和TSH浓度,将检测不通过的召回进一步检查。结果 2014年10月～2017年9月共筛查新生儿130 049例,筛查率呈逐年上升趋势。HPA检出率为1:6502(20/130 049),CH检出率为1:2242(58/130 049),HPA、CH检出率均略高于省内及全国检出率。对筛查阳性者进行召回确诊,高Phe者召回阳性率在8.65%,高TSH者召回阳性率在25.42%。接近阳性预测值。HPA可疑阳性患儿召回经基因诊断100%符合。PKU患儿、CH患儿诊疗情况良好,随访进展较满意。结论通过新生儿筛查可做到及时筛查、尽早诊断、尽快治疗,避免因HPA、CH导致的智力低下,有利于提高我市出生人口质量。Objective：To investigate the incidence of major inherited metabolic diseases among neonates in Nantong neonatal screening center from October 2014 to September 2017,and to analyze the screening and follow up effect of local hyperphenylalaninemia（HPA）and congenital hypothyroidism（CH）. Methods：Time resolved immunofluorescence（DELFIA）was used to detect the concentrations of phenylalanine（Phe）and TSH in dried blood spots. Results：From October 2014 to September 2017,130 049 newborns were screened and the screening rate was increasing year by year. The detection rate of HPA was 1：6502（20/130 049）,and the detection rate of CH was 1：2242（58/130 049）. The detection rate of HPA and CH was slightly higher than that in the province and the national detection rate. The recall positive rate of the high Phe was 8.65%,and the recall positive rate of the high TSH was 25.42%. This is close to the positive predictive value. The recall of HPA suspected positive children was conformed by gene diagnosis 100%. The diagnosis and treatment of children with PKU and CH was good,and the progress of follow-up was satisfactory. Conclusion：Early screening,early diagnosis and early treatment through neonatal screening can avoid mental retardation caused by HPA and CH and improve the quality of birth population in our city.

关 键 词：新生儿筛查 先天性甲状腺功能减低症(CH) 苯丙酮尿症(PKU) MS/MS 基因突变 

分 类 号：R722.1[医药卫生—儿科]