Reference center for congenital esophageal abnormalities CRACMO, University of Lille 2, Lille, France.
Dis Esophagus. 2013 May-Jun;26(4):354-5. doi: 10.1111/dote.12051.
Esophageal atresia (EA) is a rare congenital malformation consisting of a lack of continuity between the upper and lower esophageal pouches, frequently associated with tracheoesophageal fistula. The prevalence of such rare abnormalities is established by global birth surveillance programs over the world. EUROCAT is a European program covering 1.7 million births since its creation. The prevalence of EA in Europe seems stable over decades. The National Birth Defects Prevention Network in the USA also shows a stable prevalence with a wide range between states or regions. In France, with the implementation of the national rare diseases plan, a reference center for congenital abnormalities of the esophagus was created in 2006 and a national registry for EA began patient inclusion in 2008. This has resulted in the establishment of the national live birth prevalence for EA, prenatal diagnosis rates, and clinical characteristics of EA patients, early survival, and early morbidity. Prevalence rates seem stable all over the world since many decades. Continuous surveillance of congenital abnormalities and specific registries are useful for epidemiologic data but also for public health authorities for helping families of rare diseases patients.
食管闭锁（EA）是一种罕见的先天性畸形，表现为食管上下段之间连续性中断，常合并气管食管瘘。通过全球出生监测项目可以确定此类罕见畸形的发生率。EUROCAT 是一个覆盖欧洲 170 万例出生的项目。几十年来，欧洲 EA 的发生率似乎保持稳定。美国国家出生缺陷预防网络（National Birth Defects Prevention Network）的研究也显示出稳定的发生率，各州或地区之间的发生率差异较大。在法国，随着国家罕见病计划的实施，2006 年成立了一个食管先天性异常的参考中心，并于 2008 年开始对 EA 患者进行全国登记。这一举措确定了 EA 的全国活产儿患病率、产前诊断率以及 EA 患者的临床特征、早期存活率和早期发病率。几十年来，全球的发病率似乎一直保持稳定。对先天性畸形进行连续监测和建立专门登记处不仅有助于获取流行病学数据，也有助于公共卫生部门为罕见病患者的家庭提供帮助。
