中国新生儿先天性甲状腺功能低下症与苯丙酮尿症筛查22年回顾

目的 总结我国开展新生儿筛查的情况,探讨我国新生儿筛查中存在的问题和对策.方法 回顾性分析我国新生儿筛查的发展历史、模式、筛查方法 、治疗随访与患病率等临床资料.结果我国新生儿筛查从1985年开始全面开展,筛查和治疗主要分为3种模式,目前筛查覆盖率还较低.1985至2006年共有13 229 242例新生儿参加了先天性甲状腺功能低下症(CH)的筛查,检出患儿6505例,患病率为49.2/10万,同时对13 666 750例新生儿进行了苯丙酮尿症(PKU)筛查,检出患儿1170例,患病率为8.6/10万.全国CH患病率呈上升趋势,且西部地区患病率较高,而全国PKU患病率相对较稳定.结论新生儿筛杏是预防CH和PKU患儿智力和体格发育落后的关键.应进一步提高新生儿筛查的覆盖率、筛查率和治疗率,加强健康教育,普及新生儿筛查知识,积极探索筛查新技术.

Retrospective study on neonatal screening for congenital hypothyroidism and phenylketonuria in China in the past 22 years

Objective The retrospective study was carried out to investigate the nation-wide neonatal screening program in the past 22 years in China. This study aimed to summarize the experience, analyze the questions and concems in the screening program. Methods All data on the national neonatal screening in the past 22 years were from National Center for Clinical Laboratory. Study items included the development and mode of the program, screening method adopted as well as the clinical records of prevalence, treatment and follow-up etc. Results Neonatal screening has become universal since 1985 in China. There were three modes of screening and treatment. From 1985 to 2006, a total of 13 229 242 newborns were screened for congenital hypothyroidism (CH) and 6505 were diagnosed as CH at a prevalence of 49.2/100 000; a total of 13 666 750 newborns were screened for phenylketonuria (PKU), and 1 170 were diagnosed as PKU at a prevalence of 8.6/100 000. The prevalence of CH increased year by year and the western regions in China had a much higher prevalence. The prevalence of PKU was relatively more steady than that of CH in China. Conclusions Neonatal screening is of paramount importance in preventing mental retardation and developmental delay after CH and PKU. It is necessary to attach more importance to increase the rate of coverage, screening and treatment, as well as social awareness of neonatal sereening.It is important to focus on establishment of new screening techniques so as to improve the level of child health care in China.