Esophageal atresia is a birth defect in which the esophagus, the tube normally leading from the throat to the stomach, ends in a blind pouch instead of reaching the stomach. The condition may also present with one or more fistulas, or abnormal passageways, between the espohagus and the trachea or windpipe, called tracheoesophageal fistulas. Esophageal atresia is a rare condition, present in about one in 4425 live births. The causes of the condition are unknown.
Esophageal atresia develops in the fourth fetal week. It can be diagnosed at birth, or prior to birth through ultrasound. Symptoms of esophageal atresia in a newborn include drooling due to an inability to swallow saliva, choking, coughing, and sneezing. The baby may also become cyanotic, meaning the skin turns blue, due to lack of oxygen.
If esophageal atresia is suspected, it can be diagnosed through placing a catheter down the baby's throat, or by placing barium, a chalk-like liquid, in the mouth, and then taking an x-ray. The catheter or barium will show up on the x-ray image, indicating the endpoint of the esophagus. Esophageal atresia can then be surgically repaired.
In some cases, if the gap between the two portions of the esophagus are too far apart, it is not possible to repair the defect through surgery. Instead, a gastrostomy is performed, allowing tube feeding directly into the stomach. An esophagostomy may also be performed, allowing saliva to drain outside the body directly from the esophagus through a tube. Often, the esophageal atresia can be surgically repaired later in life in such cases.
Even after surgical repair, esophageal atresia can have complications. These may include frequent heartburn and trouble swallowing, or the development of a leak or a tight spot in the esophagus at the site of repair. Further surgery can be helpful to manage these complications.
A possible serious complication of atresia of the esophagus is tracheomalacia, or a weakening of the trachea. This condition can cause fluid buildup during feeding and obstruction of the trachea, leading to severe hypoxia or lack of oxygen. Tracheomalacia sometimes resolves itself, as the trachea stiffens as the child matures, and sometimes it can be repaired by fairly simple surgery, such as the placement of a stent to support the trachea.