Esophageal atresia is a congenital disorder in which a baby’s esophagus does not form properly during pregnancy.

The esophagus is a tube that connects the mouth to the stomach. With esophageal atresia, babies have two separate tubes instead of one—and they are not connected to each other. As a result, the baby is unable to digest milk or other fluids. 

Esophageal atresia often occurs with another rare problem, tracheoesophageal fistula (TE fistula). A baby with esophageal atresia has a connection between the esophagus and the trachea (windpipe) going in to the lungs. Normally, the esophagus and the trachea are two separate tubes that are not connected to one another.

At Yale Medicine, our maternal-fetal specialists are experts in treating rare conditions like esophageal atresia and TE fistula—and many more problems that arise in utero. Our Fetal Care Center is the only of its kind in the state and one of just a few in the Northeast.

Our Yale Medicine surgeons are skilled at several treatments for esophageal atresia and TE fistula. 

A birth defect, esophageal atresia occurs when the upper esophagus, which carries food from the mouth to the stomach, does not connect with the lower esophagus and stomach. The connection problem is because the esophagus grows into two separate segments—instead of one—and neither of which is connected.

As a result, a baby with this condition is unable to swallow or eat normally. If not diagnosed prenatally, the problem becomes evident soon after birth. A baby with esophageal atresia may need to be fed intravenously until the esophagus can be surgically repaired.

Esophageal atresia affects 1 in 4,000 babies.

Tracheoesophageal fistula is another birth defect often occurring with esophageal atresia. It affects 1 in 2,000 to 4,000 babies, says Mert Ozan Bahtiyar, MD, medical director of the Fetal Care Center. Early in a baby’s development, the trachea and esophagus form as a single tube. Within eight weeks, a wall should form between the two, separating them from one another.

With TE fistula, the esophagus and trachea remain joined. This can occur with or without esophageal atresia. If your baby also has esophageal atresia, milk is not delivered to the stomach. Because the esophagus and trachea are joined, stomach contents end up in the lungs. Physicians refer to this as “soiling the lungs,” and it can lead to pneumonia and other problems.

The exact causes of esophageal atresia and tracheoesophageal fistula are unknown. There could be a genetic component, but it is not necessarily inheritable.

Up to half of all babies with esophageal atresia or tracheoesophageal fistula have at least one other birth defect, and often several. These can include Trisomy 13, 18 or 21, or problems that affect the heart, muscular and skeletal development, the kidneys and urinary and digestive tracts.

Both esophageal atresia and tracheoesophageal fistula are also commonly found in babies with VACTERL association. The acronym stands vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies and limb abnormalities. Those with VACTERL typically have at least three of these conditions. 

Signs and symptoms of esophageal atresia or tracheoesophageal fistula are usually noticed soon after birth. They may include:

·      White, frothy bubbles in the mouth

·      Vomiting

·      Coughing or choking when feeding

·      Trouble breathing

·      Bluish skin color, especially when baby is feeding

·      Round, full abdomen

“Sometimes one or both of these conditions can be identified in utero. An early sign may be high levels of fluid (called polyhydramnios), particularly if accompanied by early contractions,” says Dr. Bahtiyar, who is also an associate professor of obstetrics, gynecology and reproductive sciences at Yale School of Medicine. “This is one reason why amniotic fluid is monitored in ultrasounds. Often, though, esophageal atresia and TE fistula are not diagnosed until after birth.”

If symptoms suggest esophageal atresia and/or tracheoesophageal fistula, a doctor will conduct a thorough physical exam and order X-rays and other imaging studies of the chest and abdomen.

The doctor may also try to guide a small tube into the esophagus through either the mouth or nose. If the child has esophageal atresia, the tube will not be able to pass to the stomach. 

At Yale Medicine, we offer several different treatment options for esophageal atresia and TE fistula. “In coming up with a plan before birth, we work with a multidisciplinary team of maternal-fetal specialists, neonatologists, pediatric surgeons and other pediatric specialists,” says David H. Stitelman, surgical director of the Fetal Care Center. “A designated nurse coordinates all care and keeps families informed of every test result and procedure along the way.”   

What treatment course we choose depends on the type of abnormality, the baby’s overall health and medical history, the recommendations of the medical team—and, importantly, the family’s input.

In cases of esophageal atresia where there is a fistula, the baby is at risk of soiling the lungs with stomach contents. For babies with both conditions, there is not usually much distance between the two ends of the esophagus. 

If the baby is stable, a procedure called a thoracotomy is performed in the first few days of life. An incision is made into the baby’s chest to gain access to the esophagus. The connection between the esophagus and the trachea is closed and the two ends of the esophagus are connected.

Babies with esophageal atresia and no tracheoesophageal fistula (called “pure esophageal atresia”) are not at risk for stomach contents soiling the lungs. However, babies with pure esophageal atresia usually have a longer distance between the two ends of the esophagus. There are several approaches to surgical correction of esophageal atresia without TE fistula, but in most cases, the best treatment is a gastrostomy tube.

A gastrostomy tube goes through the abdominal wall and allows the baby to receive feedings directly into the stomach until the two ends of the esophagus grow closer, which typically happens within a few months of birth. The surgeon will monitor this distance to identify the optimal time for surgical correction and removal of the tube.

There are several surgical maneuvers to bring the ends of the esophagus together, but typically, when possible, the surgical team approaches the esophagus through the chest to bring the two ends of the esophagus together. Usually, a temporary tube is placed in the chest to drain fluid from around the esophagus.

Babies will need to be fed intravenously or through a tube into the stomach until after surgical correction and while the esophagus is healing. Once the esophagus is healed, he or she can begin feeding by mouth.

A hospital stay will likely be needed until surgery can be performed, and afterward, until healing is complete.

“How long this will take depends on the severity of a child’s condition. Most babies do very well after surgery,” says Dr. Stitelman, who is also an assistant professor of surgery (pediatrics) at Yale School of Medicine. “Post-operatively, the majority spend a few days under observation in the neonatal ICU (NICU), where they are given medicine to reduce pain from the incision and IV fluids to maintain hydration.”

Within the first week after surgery, a swallow study will be performed to evaluate the success of the procedure. This requires the baby to swallow a contrast dye that can be seen with an X-ray.

A baby can begin to feed by mouth as soon as healing progresses to the point where there is no leakage from the esophagus. Sometimes this takes several weeks.  

Some children with esophageal atresia or TE fistula develop a narrowing (stricture) at the spot where the esophagus has been repaired. This may cause difficulty swallowing liquids or solids, leaving the baby at risk for choking. This problem is identified with a special type of X-ray called an esophagram. Treatment involves surgically stretching of the stricture.  

Children with esophageal atresia may have several other challenges, including tracheomalacia (a floppy airway), gastroesophageal reflux and/or esophageal motility issues, all of which are managed in the long term by Yale Medicine’s multidisciplinary team.

Every week, the multidisciplinary team at Yale Medicine’s Fetal Care Center meets to discuss and coordinate care for babies in-utero who are at risk for such disorders as esophageal atresia and tracheoesophageal fistula.

We work hand-in-hand with pediatric surgeons and other specialists who will help care for a baby once he or she is born. Our dedicated care coordinator is available to help parents through this anxiety-provoking time, offering emotional support, answering questions and helping with scheduling. Two social workers are on hand for additional support.