Esophageal Atresia and Tracheoesophageal Fistula (EA/TEF)

Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are rare conditions that develop before birth. They often occur together and affect the development of the esophagus, trachea or both. These conditions can be life-threatening and must be treated shortly after birth.

During normal prenatal development, the trachea (which connects the throat to the lungs) and esophagus (which connects the back of the mouth to the stomach) start out as a single tube. While babies are developing in the womb, a wall usually forms in the tube — dividing it into two separate tubes that have no connections. The trachea is for air, the esophagus is for food.

If the esophagus and trachea form abnormally or don’t divide completely, an esophageal atresia and/or tracheoesophageal fistula can occur. While EA can appear alone, most forms of EA also include TEF.

What is esophageal atresia?

An esophageal atresia occurs when the esophagus is formed in two segments, and the baby is born with their esophagus not attached to their stomach. The upper part connects the mouth/throat to a blind pouch (proximal end), and the lower part connects the stomach to a blind pouch (distal end).

In infants with esophageal atresia, the two ends of the esophagus do not meet. Food and saliva cannot get from the mouth to the stomach.

What is tracheoesophageal fistula?

Tracheoesophageal fistula, also known as TE fistula or TEF, is an abnormal connection (fistula) in one or more places between the esophagus and the trachea.

Related problems

Babies with EA cannot swallow breastmilk, bottled milk or even their own saliva, and food cannot get to the stomach to be digested.

Tracheoesophageal fistula in newborns is slightly different, in that babies with TEF can swallow breast or bottle milk. However, the liquid often leaks through the fistula between the esophagus and trachea and travels to the lungs. This can cause infections or pneumonia.

The direct cause of EA/TEF is not known. Research suggests a genetic component because around half of the babies born with EA or TEF also have other birth defects.

Associated conditions

In particular, EA/TEF has been linked to:

• VACTERL syndrome, a complex condition that includes a group of birth defects often seen together that affect the vertebrae, anus, heart (cardiac), trachea, esophagus, kidney (renal), and limbs
• Digestive tract problems such as congenital diaphragmatic hernia, duodenal 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
• Trisomy 13, Trisomy 18 and Trisomy 21 (Down syndrome)

For babies born with both esophageal atresia and tracheoesophageal fistula, symptoms are obvious almost immediately after birth.

The most common esophageal atresia and tracheoesophageal fistula symptoms include:

• Difficulty breathing
• Coughing or choking when swallowing or attempting to feed

Babies with a TE fistula — but not EA — may take several weeks to diagnose because TE fistula symptoms generally only appear as mild coughing or respiratory problems.

Other tracheoesophageal fistula symptoms and/or esophageal atresia symptoms can include:

• Frothy, white bubbles from the mouth
• Vomiting
• Very round, full belly (from gas being trapped there)
• Bluish color to the skin, especially when the baby is feeding
• Nurses unable to pass a tube from your baby’s mouth into their stomach

Most babies with esophageal atresia and tracheoesophageal fistula are diagnosed shortly after birth when symptoms first appear. In these cases, clinicians perform a physical examination of the baby, get a medical history, then perform tests to determine how your child’s trachea and esophagus are affected.

Tests may include:

• Rigid bronchoscopy: A surgeon uses a telescope and camera to peer into the baby’s windpipe (trachea). This is the test most often used to establish the presence and type of TEF.
• X-rays, with a nasogastric tube (NG tube): A clinician will insert an NG tube into your baby’s nose, down the esophagus and try to get it to the stomach. If the NG tube hits a blocked end of the esophagus — which happens if your child has EA – doctors can see the blockage and where it is using an X-ray. X-rays can also show if there is gas in your baby’s stomach, a sign of TEF caused by air traveling through the abnormal opening (fistula) between the esophagus and the trachea.
• Barium swallow test: If clinicians suspect your baby has a TE fistula without EA, they may have your baby swallow a chalky liquid called barium, then X-ray your child’s digestive tract to detect any abnormalities. This test is rarely used.

As prenatal imaging has improved, some babies with EA/TEF are now being diagnosed before birth with high-resolution fetal ultrasound. At Children’s Hospital of Philadelphia, our Center for Fetal Diagnosis and Treatment can help your family prepare for the birth of your baby with EA/TEF and create a treatment plan to address the condition(s) shortly after birth.

If your baby has esophageal atresia and/or tracheoesophageal fistula, they will need surgery. The type of surgery will depend on the internal structure of your child’s trachea and esophagus, how the anomaly is affecting your child’s breathing or feeding, and the overall health of your baby. In some cases, multiple procedures may be needed.

At Children’s Hospital of Philadelphia, your child will be cared for by an expert team with experience caring for children with EA/TEF. Our pediatric surgeons, surgical advanced practice nurses and pediatric anesthesiologists offer advanced thoracoscopic repair. Your child will also have direct access to any other subspecialties and support they may need for associated diseases and anomalies.

Preparing for surgery

At Children’s Hospital of Philadelphia, your baby with EA/TEF will be cared for in the Newborn/Infant Intensive Care Unit (N/IICU) before and after surgery. The N/IICU staff will provide your baby with breathing support, IV fluids for nutrition and hydration, and additional support for prematurity if needed.

Tests for a possible VACTERL association will be done at your baby’s bedside. Blood will also be drawn to determine type, electrolyte levels, and any signs of infection. If an infection is found, your baby may be given antibiotics.

What to expect during surgery for EA/TEF

To prepare for EA/TEF surgery, your baby will be given a breathing tube — if they don’t already have one — to help maintain their airway during surgery. A doctor will then administer an anesthetic to your baby for the operation.

Surgery for EA and TEF is performed through an opening on the side of your baby’s chest. Depending on the type of surgery your child needs, this will either be one long opening or several small openings.

The first step in esophageal atresia repair — whether your baby has EA/TEF or EA alone — is a bronchoscopy. In a bronchoscopy, a small camera is inserted into the windpipe to look for fistulas that are small, hidden, or not obvious from prior tests.

If your child has tracheoesophageal fistula and esophageal atresia, the surgeon may decide to place a gastrostomy tube that can be used to feed your child and “burb” the stomach of excess air. For children with EA alone, a gastrostomy tube will definitely be placed because it will be the only way your child can get food and nutrients into their stomach.

For babies with TEF and EA, the next part of surgery is to divide the esophagus from the windpipe at the abnormal connection (fistula) and close the hole left in the windpipe. If the two ends of the esophagus are long enough, the surgeon will stitch the two ends of the esophagus together to create a functioning esophagus between the back of the throat and the stomach.

If the two ends of the esophagus aren’t long enough to be connected, we will wait a few weeks to allow your baby to grow before attempting to connect them again in a second surgery. In the meantime, your baby can be fed through the gastrostomy tube that was placed.

For babies with esophageal atresia — and not TEF — surgery includes connecting the two ends of the esophagus to form a functioning channel between the back of the throat and the stomach. If the ends of the esophagus are not long enough to be connected at this time, we will wait until your baby grows and try again in a few weeks. While waiting for esophageal atresia surgery, your baby can be fed through a gastrostomy tube.

If the two ends of the esophagus are successfully sewn together, a chest tube may be placed during surgery to drain saliva that may leak from the new connection.

After surgery

After surgery for EA/TEF, your baby will return to the N/IICU. Depending on your child’s condition and which procedures were performed, your baby may have an IV for pain medications, a gastrostomy tube to carry food to the stomach, and a chest tube to drain fluid away from their reconnected esophagus.

Your baby may also need a ventilator to help them breathe for a short time after surgery. Once your child can breathe on their own, the ventilator will be removed.

Nurses will suction your baby’s mouth frequently until they get used to swallowing their own saliva. Additionally, clinicians may gently tap on your baby’s chest to keep their lungs expanded and clear.

The chest tube (drain) will stay in place until approximately a week after surgery when special X-rays are done and show there isn’t a leak where the two ends of the esophagus were sewn together (anastomosis). If a leak is found, the drain will stay in place until the leak stops.

Your baby may not be able to eat for the first week after surgery. Most babies begin to receive nutrients through the gastrostomy tube initially as they practice eating smaller volume feedings by mouth. It can take a while for babies with EA/TEF to work up to eating everything by mouth.

Complications

Complications are possible for babies after treatment for esophageal atresia and tracheoesophageal fistula.

The most common complications include:

• A leak of saliva where the two ends of the esophagus were connected. If a leak occurs, it will generally heal in a week or two. Additional surgery is not usually necessary.
• Difficulty eating by mouth. Because babies haven’t eaten by mouth since birth, it often takes time and practice to learn this skill. Speech therapy can help your child build these skills
• Gastroesophageal reflux (GER) is very common after EA/TEF surgery. It is treated with medications (or, rarely, with an operation called fundoplication) prescribed by the surgical/medical team.
• The newly connected esophagus may not function perfectly at first. The passage of liquid and food may be delayed compared to a baby who was born with normal anatomy. As your baby grows and starts to eat table food, your doctors will tell you which foods your baby may have difficulty swallowing.
• Scar tissue at the surgical site may cause the esophagus to narrow, making it more difficult for your baby to swallow food. This is treated by a procedure to widen or dilate the esophagus.
• Tracheomalacia, a softening of the cartilage of the windpipe, can occur where the fistula was repaired during surgery. This causes a partial collapse of the windpipe with increased airflow. Because of this, your baby’s cry or cough may sound like a “barking” sound similar to a seal or a sea lion.

When your baby can return home after surgery depends on many things, including:

• Whether your baby was premature
• If your baby’s esophagus could be connected right away
• Your baby’s respiratory status
• Whether other medical problems were identified in your baby

If your baby was premature, they will likely need to remain in the Hospital for several weeks to months after surgery. If your baby was close to full term, the esophagus could be connected right away and there wasn’t a leak, your baby may only need to be hospitalized for a few weeks.

Before your child is discharged from the Hospital, you will be taught how to:

• Feed your baby if they have a feeding tube
• Give your baby medications, if needed
• Mix formula or breast milk if your baby needs increased calories
• Take care of your baby’s incision and dressing, if applicable

You’ll also be taught to spot signs of possible infection or narrowing of the esophagus, and when to call the pediatrician or surgeon with concerns or problems.

A few weeks after your baby leaves the Hospital, they will need to return for a follow-up visit. Your child’s surgeon will ensure the incision is healing, and your baby is recovering and growing as expected. Support staff will help your family coordinate additional services, such as home nursing visits, early intervention services, speech therapy, physical therapy and occupational therapy, as needed.

Additional follow-up care and ongoing support and services are available at our Main Campus and throughout our CHOP Care Network. Our team is committed to partnering with you to provide the most current, comprehensive and specialized care possible for your child.

Long-term outcomes for children with EA and TEF are generally good. While most children can eat normally, some may need to chew their food more, eat slower or take smaller bites to help ease food down the esophagus. About half of all children who had esophageal atresia will have life-long problems with GER. In most cases, GER can be treated with medication.

Most babies born with EA/TEF thrive. Their outcome depends mostly on associated conditions more than on the problems with the esophagus itself.