Esophageal atresia (EA) with distal tracheoesophageal fistula (TEF) is the most likely diagnosis. Chest radiographs show the orogastric tube curled in the upper esophageal pouch confirming the diagnosis of EA. The presence of a gastric bubble suggests a connection from the trachea to the distal esophagus or a distal TEF. Absence of a gastric bubble is diagnostic of either EA without a TEF or EA with a proximal TEF. Focal infiltrates may indicate pneumonia secondary to aspiration of gastric contents or feedings.

Normal oxygen saturation at rest implies intact tracheobronchial anatomy. When a newborn has desaturations while feeding, it implies that there is a significant anatomic or functional problem with the proximal alimentary tract (nasopharynx, oropharynx, esophagus, or stomach).

In addition to excessive drooling or choking with feeds, newborns may also present with respiratory distress or pneumonia. The presentation of TEF is determined by the presence or absence of EA as well as the presence and severity of associated anomalies. Patients with small fistulas with a normal esophagus (H-type) may be asymptomatic and will not present until later in life with recurrent pneumonia or respiratory distress with feeding.

Although the pathogenesis remains unknown, EA with or without TEF is thought to be caused by a defect in the development of the longitudinal tracheoesophageal fold that separates the most caudal part of the primitive foregut into the trachea and esophagus. It is believed that the fistula tract is derived from defective epithelial-mesenchymal interactions in a branch of the embryonic lung bud that fails to develop. An alternate theory is that the primitive foregut occludes, then there is a failure of recanalization.

EA and TEF are classified by their anatomic configuration, specifically the location of the TEF (Fig. 35.2). The most common is Type C, a proximal esophageal pouch with a distal TEF, accounting for approximately 85 % of cases. The next most common is pure EA without TEF (8 %).

Approximately 50 % of children with TEFs have associated anomalies including cardiac, urogenital, skeletal, vertebral, anorectal, gastrointestinal, and palatal or laryngeal anomalies. Associations and syndromes such as VACTERL (Table 35.1) and CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality) are frequently diagnosed. In addition, there are reports of associations with trisomies 18, 21, and 13 as well as single gene deletions. The most common associated anomalies are cardiovascular.