Oesophageal atresia (OA) is a congenital condition where the esophagus, the tube connecting the mouth to the stomach, does not develop completely during pregnancy. This creates a gap, preventing food and liquids from reaching the stomach. Frequently, this condition occurs alongside a tracheo-oesophageal fistula (TOF), an abnormal connection between the esophagus and the trachea, or windpipe. Globally, oesophageal atresia affects approximately 1 in 2500 live births.
Understanding Oesophageal Atresia
Oesophageal atresia involves a structural malformation where the upper part of the esophagus ends in a blind pouch, not connecting to the lower esophagus or stomach. The most common form, accounting for about 85% of cases, involves oesophageal atresia with a distal tracheo-oesophageal fistula. In this type, the upper esophageal segment forms a blind pouch, while the lower esophageal segment connects abnormally to the trachea.
Another type, known as pure oesophageal atresia, occurs in about 8% of cases and presents without tracheo-oesophageal fistula. Here, both the upper and lower segments of the esophagus are blind-ended and do not connect. Rarer forms include H-type fistulas, where a connection exists between the trachea and esophagus without complete esophageal discontinuity, or cases where the upper esophageal segment connects to the trachea.
Recognizing and Diagnosing Oesophageal Atresia
The presence of oesophageal atresia can sometimes be suggested before birth through prenatal ultrasound examinations. One common indicator is polyhydramnios, an excessive accumulation of amniotic fluid surrounding the fetus. This occurs because the fetus cannot swallow the amniotic fluid due to the obstructed esophagus.
After birth, several distinct signs alert medical professionals to the possibility of oesophageal atresia. Newborns exhibit excessive drooling or frothing from the mouth. Attempts at feeding result in coughing, choking, and regurgitation of milk or formula, leading to respiratory distress. Infants may also show signs of cyanosis, a bluish discoloration of the skin, indicating insufficient oxygen due to aspiration of fluids into the lungs.
Diagnosis is confirmed by attempting to pass a nasogastric tube into the infant’s stomach. In cases of oesophageal atresia, the tube will meet resistance and coil in the blind-ended upper esophageal pouch. A chest X-ray is then performed to visualize the position of the coiled tube and assess for the presence of air in the stomach, which indicates a tracheo-oesophageal fistula. Prompt identification helps prevent serious respiratory complications like aspiration pneumonia.
Treatment and Recovery
Surgical correction is the main treatment for oesophageal atresia. The most common procedure is a primary repair, where the two ends of the esophagus are carefully joined. Any existing tracheo-oesophageal fistula is simultaneously ligated and divided to prevent aspiration of stomach contents into the airway or air from the trachea entering the stomach.
Surgical approaches can vary, with some centers utilizing open surgery through an incision in the chest, while others employ minimally invasive thoracoscopic techniques. For infants with a long gap between the esophageal segments, a staged repair may be necessary. This involves initial procedures to manage feeding and protect the airway, followed by a later surgery to connect the esophageal ends once they have grown closer.
Immediate post-operative care involves close monitoring in a neonatal intensive care unit (NICU). Infants require mechanical ventilation to support breathing and are fed through a gastrostomy tube, which is placed directly into the stomach, bypassing the esophagus. Pain management is carefully administered to ensure comfort. Early potential surgical complications, though uncommon, can include an anastomotic leak where the repaired esophageal connection separates, or the recurrence of a tracheo-oesophageal fistula.
Initial recovery focuses on healing of the surgical site and the gradual reintroduction of oral feedings. This process is carefully managed to ensure the infant can safely swallow without aspiration. Speech and feeding therapists become involved to assist with developing proper swallowing techniques and addressing any difficulties.
Long-Term Outlook and Management
With advancements in surgical techniques and neonatal care, the prognosis for infants born with oesophageal atresia is positive, with high survival rates. However, individuals who have undergone repair for oesophageal atresia require ongoing medical management due to potential long-term complications.
Gastroesophageal reflux disease (GERD) is common due to impaired esophageal motility and a weakened anti-reflux mechanism. Management involves medications to reduce stomach acid and lifestyle adjustments. Esophageal strictures, or narrowings at the site of the surgical repair, are frequent and may require endoscopic dilations to stretch the esophagus and improve swallowing.
Difficulty swallowing, known as dysphagia, can result from strictures or from abnormal esophageal muscle contractions, affecting the coordinated movement of food. Tracheomalacia, a weakness of the tracheal walls, can occur, leading to a “barking” cough or noisy breathing, particularly during respiratory infections. In some instances, a recurrent tracheo-oesophageal fistula may develop, necessitating further surgical intervention.
Long-term follow-up with a multidisciplinary team, including pediatric gastroenterologists, pulmonologists, and surgeons, helps monitor these potential complications. Regular check-ups help ensure timely intervention and management of any issues that arise. Despite these potential challenges, most children and adults who have undergone successful oesophageal atresia repair lead full and active lives with appropriate medical support.