Embryology of oesophageal atresia

Esophageal atresia (OA) and tracheoesophageal fistula (TOF) are important human birth defects of unknown etiology. The embryogenesis of OA/TOF remains poorly understood, mirroring the lack of clarity of the mechanisms of normal tracheoesophageal development. The development of rat and mouse models of OA/TOF has allowed the parallel study of both normal and abnormal embryogenesis. Although controversies persist, the fundamental morphogenetic process appears to be a rearrangement of the proximal foregut into separate respiratory (ventral) and gastrointestinal (dorsal) tubes. This process depends on the precise temporal and spatial pattern of expression of a number of foregut patterning genes. Disturbance of this pattern disrupts foregut separation and underlies the development of tracheoesophageal malformations.