Esophageal atresia

We understand that you may have a lot of questions when your child is diagnosed with esophageal atresia.

• What exactly is it?
• What are the treatments?
• How will it affect my child long term?

We’ve provided some answers to those questions here, and when you meet with our experts, we can explain your child’s condition and treatment options fully.

What is esophageal atresia?

Esophageal atresia (EA) is a birth defect in which part of your baby’s esophagus is missing. Instead of forming a tube between the mouth and the stomach, the esophagus grows in two separate segments that do not connect.

Children with esophageal atresia almost always have another birth defect called tracheoesophageal fistula, or TEF (a fistula is an abnormal connection). The esophagus and trachea should be two separate, unconnected tubes, but in TEF, they're connected.

There are four types of esophageal atresia:

• Type A  
  • The upper and lower segments of the esophagus end in pouches, like dead-end streets that don’t connect.
  • TEF is not present.
• Type B
  • The lower segment ends in a blind pouch.
  • TEF is present on the upper segment.
  • This type is very rare.
• Type C
  • The upper segment ends in a blind pouch.
  • TEF is present on the lower segment.
  • This is the most common type.
• Type D
  • TEF is present on both upper and lower segments.
  • This is the rarest form of EA/TEF.

How do babies with esophageal atresia eat?

Without a working esophagus, your baby may be unable to swallow or feed normally. Once esophageal atresia is diagnosed, she will probably be fed intravenously at the hospital until doctors perform surgery to repair her esophagus.

Is esophageal atresia common?

About one in 4,000 babies in the United States is born with esophageal atresia, making it the 25^th most common birth defect.

Is esophageal atresia dangerous?

Without a working esophagus, it’s impossible to receive enough nutrition by mouth. Babies with esophageal atresia are also more prone to infections like pneumonia and conditions such as acid reflux. Luckily, esophageal atresia is most often correctable.

Causes

What causes esophageal atresia?

The exact cause of esophageal atresia is still unknown, but it appears to have some genetic components. Up to half of all babies born with esophageal atresia have one or more other birth defects, such as:

• trisomy 13, 18 or 21
• other digestive tract problems, such as diaphragmatic hernia, intestinal atresia or imperforate anus
• heart problems, such as ventricular septal defect, tetralogy of Fallot or patent ductus arteriosus
• kidney and urinary tract problems, such as horseshoe or polycystic kidney, absent kidney or hypospadias
• muscular or skeletal problems

Esophageal atresia and tracheoesophageal fistula are also often found in babies born with VACTERL syndrome. This is a non-random collection of abnormalities that may also involve the spine, heart, lower digestive tract, kidneys and limbs. Not all babies born with VACTERL syndrome have abnormalities in all of these areas.

Long-gap esophageal atresia may also result from surgery to try to fix a milder case of esophageal atresia, or to repair a tracheoesophageal fistula.

Signs and symptoms

What are the signs and symptoms of esophageal atresia?

The first signs of esophageal atresia are usually clearly seen very soon after birth. The most common are:

• frothy white bubbles in your baby’s mouth
• coughing or choking when feeding
• vomiting
• blue color of the skin, especially when your baby is feeding
• difficulty breathing
• very round, full abdomen

FAQ

Q: What is the treatment for esophageal atresia?
A: Treatments for EA vary depending on how severe it is. Usually, the best treatment is surgery to reconnect the two ends of your baby’s esophagus to each other when she is between 2 and 6 months old.

In some children, however, the ends are so far apart they cannot be easily connected. This is known as long-gap esophageal atresia. The Foker process was developed to address this condition.

Q: What is the Foker process?
A:Developed by John Foker, MD, a pediatric surgeon from the University of Minnesota, the Foker process is a technique to stimulate the upper and lower ends of the esophagus to grow so they could be joined together. It’s only available here at Children's. Learn more.

Q: How long does the Foker process take?
A: It depends on how far your child’s esophagus needs to grow, but surgeons are usually able to attach the two ends together in anywhere from two to five weeks.

Q: What are the other treatments for esophageal atresia?
A:Other treatments for esophageal atresia involve different types of surgery. Your child’s care team work together to determine the best treatment for her EA. Learn more.

Q: What’s the long-term outlook for children with esophageal atresia?
A:If caught early and treated properly, most babies with esophageal atresia can eat normally within two to three months. They may need to be monitored for strictures (places of narrowing) in their esophagus, but these are treatable, and in general the outlook is quite good. In fact, the Foker process most often results in an esophagus that’s indistinguishable from one that has developed normally.

Questions to ask your doctor

After your child is diagnosed with esophageal atresia, you may feel overwhelmed with information. It can be easy to lose track of the questions that occur to you.

Lots of parents find it helpful to write down questions as they arise–that way, when you talk to your child’s doctors, you can be sure that all of your concerns are addressed. Here are some to get you started:

• What kind of esophageal atresia does my child have?
• How did you arrive at this diagnosis?
• Does my child also have a tracheoesophageal fistula?
• Are there any other conditions my child might have in addition to esophageal atresia?
• What’s the best treatment for my child right now?
• How much experience does this institution have with esophageal atresia?
• When and how will you follow up with my child?
• What resources are available to help my family cope?

What else do I need to know right now?