What is esophageal atresia?

The esophagus is a tube that carries food and liquids from your mouth to your stomach. Esophageal atresia is a digestive system disorder where a fetus's esophagus develops abnormally before birth.

In babies with esophageal atresia, the esophagus doesn’t connect correctly to the stomach. This malformation can cause choking and breathing problems. It prevents all food from reaching the stomach after swallowing.

Esophageal atresia is a congenital disability (birth defect), which means that it forms during a baby’s development before birth. It often occurs with another problem called tracheoesophageal fistula. A fistula is an unusual connection in your body. With a tracheoesophageal fistula, the esophagus connects to the trachea (windpipe) instead of the stomach.

How common is esophageal atresia?

Doctors diagnose esophageal atresia in about 1 of every 4,300 babies in the U.S. every year.

What are the symptoms of esophageal atresia?

Signs and symptoms of esophageal atresia usually appear as soon as a baby is born. They can include:

• Bluish-colored skin when feeding.
• Choking, coughing or gagging when feeding.
• Foamy mucus in the mouth.
• Spitting up or drooling.
• Trouble breathing.

What causes esophageal atresia?

We’re not sure what causes esophageal atresia. It occurs during fetal development. Mutations (changes) to genes may cause the esophagus to develop abnormally.

The esophagus and trachea form at about the same time in the uterus. In fetuses with esophageal atresia, the esophagus doesn’t form into one long tube between the fetal mouth and stomach. Instead, the esophagus may be in two sections that have closed ends or link to the trachea.

Doctors have found links between esophageal atresia and other factors. These factors include advanced paternal age (a father over age 40) and fertility treatments including intrauterine insemination and in vitro fertilization.

How is esophageal atresia diagnosed?

If your baby coughs or chokes when trying to feed after birth, your provider may suspect esophageal atresia. To check, your provider may insert a feeding tube into your baby’s nose or mouth to see if the tube can travel all the way to the stomach.

An esophageal atresia diagnosis is usually confirmed with an X-ray, which shows any abnormal development of the esophagus.

In rare cases, esophageal atresia is diagnosed before birth during a prenatal ultrasound. This imaging test uses sound waves to create an image of the fetus on a monitor. Pregnancies affected by esophageal atresia commonly develop a build-up of amniotic fluid called polyhydramnios.

What are the types of esophageal atresia?

Doctors classify esophageal atresia into types based on where the problem with the esophagus occurs. The kinds of esophageal atresia are:

• Type A: Both the top and bottom sections of the esophagus have closed ends that don’t connect (also, known as “pure esophageal atresia” or “long-gap esophageal atresia").
• Type B: In this rare type of esophageal atresia, the bottom section of the esophagus is closed, and the top section attaches to the trachea.
• Type C: The most common type of esophageal atresia has the lower section of the esophagus attached to the trachea and the upper section closed.
• Type D: In this rare form of esophageal atresia, both ends of the esophagus connect to the trachea.

How is esophageal atresia treated?

Esophageal atresia can be life-threatening, so the baby has to be treated quickly. Doctors perform surgery to connect the esophagus to the stomach in babies with this condition.

Babies who are otherwise healthy have surgery just a few days after they are born. Babies with other health issues or disabilities at birth may need to wait to have surgery for esophageal atresia. If your baby has to wait for surgery, they will receive nutrition through an IV (a tiny tube inserted into a vein) until the operation occurs.

What are the possible complications of esophageal atresia?

About half of all babies with esophageal atresia also have other congenital disabilities such as heart, kidney and spinal problems.

Even after surgery, babies with esophageal atresia may experience complications including:

• Gastroesophageal reflux disease (GERD): Acid from the stomach travels back up into the esophagus, which can lead to inflammation and a burning sensation.
• Scar tissue: Scar tissue can form in the area where the esophagus is surgically repaired, leading to narrowing and swallowing difficulty.
• Tracheomalacia: Windpipe walls are weak and floppy, causing noisy, high-pitched breathing.

How can you prevent esophageal atresia?

You cannot prevent esophageal atresia. People with a higher risk of having a baby with esophageal atresia include:

• Fathers who are older at the time of the baby’s conception.
• Women who have undergone fertility treatments, including intrauterine insemination and in vitro fertilization.

You can reduce your risk of having a baby with any congenital disability by maintaining a healthy pregnancy that includes:

• Eating healthy foods.
• Exercising.
• Getting enough rest.
• Seeing your provider regularly.

What is the prognosis (outlook) for babies with esophageal atresia?

Many cases of esophageal atresia are treated successfully. In some cases, babies are able to eat about a week after surgery takes place.

Complications of esophageal atresia such as GERD and scar tissue can cause long-term issues. In some cases, babies with esophageal atresia need to continue treatments, including medications or additional surgeries, to make sure they keep healthy breathing and eating.

When should I see a healthcare provider?

Doctors diagnose esophageal atresia immediately after your baby is born if feeding problems occur. Call your doctor right away if your baby coughs, chokes or has a bluish tint to the skin when feeding.

What questions should I ask my doctor?

If your baby has esophageal atresia, you may want to ask your doctor:

• What type of esophageal atresia does my baby have?
• Are any other congenital disabilities present?
• Is surgery the only treatment option?
• How long will it take my baby to recover from surgery?
• What complications should I look out for?