Causes and Diagnoses

Causes and Diagnoses of Tracheoesophageal Fistula and Esophageal Atresia

During a normal pregnancy, the trachea and the esophagus start forming as a single tube. Between the fourth and eighth weeks of pregnancy, a wall forms and separates them into two distinct tubes, one leading to the lungs and the other leading to the stomach.

The exact reason why is not known, but in babies with tracheoesophageal fistula and esophageal atresia, the wall separating the two tubes does not form correctly.

Experts do know that tracheoesophageal fistula and esophageal atresia are related to other birth defects. Your baby is more likely to have esophageal defects if he or she also has:
  • Trisomy 13, 18 or 21
  • Other gastrointestinal issues, including diaphragmatic hernia, duodenal atresia or imperforate anus
  • Heart defects, including ventricular septal defect, tetralogy of fallot, or patent ductus arteriosus
  • Urinary tract problems, including a horseshoe or polycystic kidney, absent kidney or hypospadias
  • Musculoskeletal defects
  • VACTERL syndrome, which can involve issues with the spine, anus, heart, esophagus, kidney and limbs

Diagnosing tracheoesophageal fistula and esophageal atresia

The most common way to diagnose tracheoesophageal fistula and esophageal atresia is with a chest and abdominal X-ray. During the test, your physician may place a tube into your child's mouth or nose and guide it into the esophagus, watching its progress on the X-ray.