中国浙江的新生儿筛查。
Newborn screening in Zhejiang, China.
机构信息
Department of Neonatal Screening, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
出版信息
Chin Med J (Engl). 2012 Feb;125(4):702-4.
BACKGROUND
It has been 11 years since newborn screening started in Zhejiang in 1999. The aim of this study was to analyze and summarize the status of newborn screening in Zhejiang from 1999 to 2009.
METHODS
Blood samples were collected from the heels of newborns 72 hours after birth. We have conducted laboratory tests that the congenital hypothyroidism (CH) and circulating levels of thyroid-stimulating hormone (TSH) was detected. Blood phenylalanine (Phe) was detected for phenylketonuria (PKU). Dissociation-enhanced lanthanide fluorescent immunoassay (DELFIA) was used for detection.
RESULTS
From 1999 to 2009, 3 875 228 newborns were screened and 2309 cases were confirmed as CH and 155 cases were confirmed as PKU. The incidence of CH and PKU were 1:1678 and 1:25 001 respectively.
CONCLUSION
In 11 years, the Zhejiang newborn screening center screened more than 3.8 million newborns, and helped more than 2000 CH and PKU patients to obtain early treatment in order to prevent physical disability and mental retardation.
背景
自 1999 年浙江省开展新生儿筛查工作以来，至今已 11 年。本研究旨在对浙江省 1999-2009 年新生儿筛查工作状况进行分析和总结。
方法
采集出生 72 小时后的新生儿足跟血，进行先天性甲状腺功能低下症（CH）、促甲状腺激素（TSH）及苯丙酮尿症（PKU）血苯丙氨酸（Phe）的实验室检测。CH 采用时间分辨荧光免疫分析法（DELFIA）检测，TSH 及 Phe 采用酶联免疫吸附法（ELISA）检测。
结果
1999-2009 年共筛查新生儿 3875228 例，确诊 CH2309 例，发病率为 1:1678；确诊 PKU155 例，发病率为 1:25001。
结论
浙江省新生儿筛查中心 11 年来共筛查新生儿 380 多万例，使 2000 多名 CH 和 PKU 患儿得到早期治疗，避免了残疾和智力低下的发生。
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