Esophageal atresia is incomplete formation of the esophagus, frequently associated with tracheoesophageal fistula. Diagnosis is suspected by failure to pass an NGT. Treatment is surgical repair.
Esophageal atresia is the most common GI atresia. The estimated incidence is 1 in 3500 live births. Other congenital malformations are present in up to 50% of cases. Two syndromes in particular are associated with esophageal atresia, VACTERL (vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies and radial aplasia, and limb anomalies) and CHARGE (coloboma, heart defects, atresia of the choanae, retardation of mental and/or physical development, genital hypoplasia, and ear abnormalities). About 19% of infants with esophageal atresia meet criteria for VACTERL.
There are 5 major types of esophageal atresia (see Fig. 1: Types and relative frequencies of esophageal atresia and tracheoesophageal fistula.). Most also involve a fistula between the trachea and esophagus.
Most infants present during the neonatal period, but infants with the H type fistula may not present until later in life. Characteristic signs are excessive secretions, coughing and cyanosis after attempts at feeding, and aspiration pneumonia. Esophageal atresia with a distal fistula leads to abdominal distention because, as the infant cries, air from the trachea is forced through the fistula into the lower esophagus and stomach.
Routine prenatal ultrasonography may suggest esophageal atresia. Polyhydramnios may be present but is not diagnostic because it can occur with many other disorders. The fetal stomach bubble may be absent but only in < 50% of cases. Less commonly, there is a dilated upper esophageal pouch, but this is typically looked for only in fetuses with polyhydramnios and no stomach bubble.
After delivery, an NGT is inserted if esophageal atresia is suspected by prenatal ultrasonography or clinical findings; diagnosis is suggested by inability to pass the tube into the stomach. A radiopaque catheter determines the location of the atresia on x-ray. In atypical cases, a small amount of water-soluble contrast material may be needed to define the anatomy under fluoroscopy. The contrast material should be quickly aspirated back because it can cause a chemical pneumonitis if it enters the lungs. This procedure should be done only by an experienced radiologist at the center where neonatal surgery will be done.
Preoperative management aims to get the infant into optimal condition for surgery and prevent aspiration pneumonia, which makes surgical correction more hazardous. Oral feedings are withheld. Continuous suction with an NGT in the upper esophageal pouch prevents aspiration of swallowed saliva. The infant should be positioned prone with the head elevated 30 to 40° and with the right side down to facilitate gastric emptying and minimize the risk of aspirating gastric acid through the fistula. If definitive repair must be deferred because of extreme prematurity, aspiration pneumonia, or other congenital malformations, a gastrostomy tube is placed to decompress the stomach. Suction through the gastrostomy tube then reduces the risk that gastric contents will reflux through the fistula into the tracheobronchial tree.
When the infant's condition is stable, extrapleural surgical repair of the esophageal atresia and closure of the tracheoesophageal fistula can be done. Occasionally, interposing a segment of colon between the esophageal segments may be required.
The most common acute complications are leakage at the anastomosis site and stricture formation. Feeding difficulties are common after successful surgical repair because of poor motility of the distal esophageal segment, which occurs in up to 85% of cases. This poor motility predisposes the infant to gastroesophageal reflux. If medical management for reflux fails, a Nissen fundoplication may be required.
Last full review/revision March 2013 by William J. Cochran, MD
Content last modified May 2013