胎儿食管闭锁的诊疗挑战：从产前诊断、手术干预到预后管理^*

Clinical Challenges in the Diagnosis and Management of Fetal Esophageal Atresia: From Prenatal Diagnosis and Surgical Intervention to Prognostic Management

摘要

先天性食管闭锁（esophageal atresia, EA）是严重的消化道发育畸形，其发生率约占活产儿的1/2 500～1/3 000，其特征为食管连续性中断，常伴发食管气管瘘（tracheoesophageal fistula, TEF）。EA病因复杂，随着产前影像学技术、胎儿医学及新生儿外科技术的不断发展，其产前检出率、围产期管理水平及术后预后均得到改善。但EA的临床处理仍存在相应的挑战，主要包括：产前诊断技术难以高效检出最常见的C型EA，个体化手术时机缺乏量化的决策标准，以及预后评估偏重近期解剖重建而忽视远期生活质量。本文系统阐述了EA在病因学、产前诊断策略、外科治疗及预后评估方面的最新研究进展。随着EA患儿整体生存率的显著提升，未来的临床研究与疾病管理亟需发生转变：从单纯关注外科解剖重建，转向突破产前诊断的技术瓶颈、优化个体化手术时机决策，弥合近期解剖重建与远期生活质量之间的鸿沟。此外，应进一步深化多学科协作模式，建立贯穿产前至成年的全生命周期随访与干预规范，以期全面改善患儿的远期生理与心理预后。

Abstract

Congenital esophageal atresia (EA), a severe malformation of the digestive tract, has an incidence of approximately 1 in every 2 500 to 3 000 live births. It is characterized by an interruption in the continuity of the esophagus and is often accompanied by tracheoesophageal fistula (TEF). The etiology of EA is complex. With continuous advancements in prenatal imaging technology, fetal medicine, and neonatal surgery, the prenatal detection rate, perinatal management, and postoperative outcomes of EA have improved. However, the clinical management of EA still faces significant challenges, including, primarily, the inefficiency of prenatal diagnostic techniques in detecting the most common Type C EA, the lack of quantitative decision-making criteria for individualized timing of surgical intervention, and prognostic evaluations that overemphasize short-term anatomical reconstruction while neglecting long-term quality of life. This article systematically reviews the latest research advances in the etiology, prenatal diagnostic strategies, surgical management, and prognostic evaluation of EA. Given the significant improvement in the overall survival rate of pediatric patients with EA, future clinical research and disease management urgently require a paradigm shift—transitioning from a sole focus on surgical anatomical reconstruction to overcoming technical limitations in prenatal diagnosis, optimizing decision-making for individualized surgical timing, and bridging the gap between short-term anatomical reconstruction and long-term quality of life. Furthermore, it is imperative to further strengthen the multidisciplinary collaborative model and establish standardized, whole-life-cycle follow-up and intervention protocols spanning from the prenatal period through adulthood, with the goal of comprehensively improving the long-term physiological and psychological outcomes of these patients.

关键词

食管闭锁 / 胎儿 / 产前诊断 / 围生期综合护理 / 手术 / 预后 / 综述

Key words

Esophageal atresia / Fetus / Prenatal diagnosis / Perinatal care / Surgery / Prognosis

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基金资助

*四川省科技厅自然科学基金项目(2022NSFSC0659)