Esophageal Atresia

What is esophageal atresia (EA)?

Esophageal atresia is a birth defect (congenital malformation) that affects the way your baby’s esophagus develops. The esophagus is the swallowing tube that connects their mouth to their stomach. “Atresia” means that a passageway in the body is missing or closed. In esophageal atresia, the esophagus is closed at the bottom where it’s supposed to connect to your baby’s stomach. This makes it impossible for your baby to feed normally.

Esophageal atresia comes in several different forms, some of which can cause additional complications for your baby. Up to 90% of babies with esophageal atresia also have another birth defect called a tracheoesophageal fistula. This means their esophagus connects to their trachea — their windpipe — instead of their stomach. This can cause them to inhale or choke on what they swallow.

What are the different types of esophageal atresia?

The different types of esophageal atresia (EA), with or without tracheoesophageal fistula (TEF), are defined by where the esophagus is closed and where it connects to the trachea, if it does.

• Type A: While it isn’t the most common, Type A is the most classical version of esophageal atresia. This version doesn’t include a tracheoesophageal fistula. Instead, the esophagus is simply closed at the bottom. It ends some distance above the stomach as a closed pouch.
• Type B: In Type B, the esophagus is closed at the bottom, and a tracheoesophageal fistula branches off from the upper part of the esophagus, connecting it to the trachea.
• Type C: This is the most common type of esophageal atresia. In Type C, the esophagus is in two separate pieces. The upper part that connects to the mouth ends in a closed pouch. The lower part connects to the stomach at the bottom and the trachea at the top.
• Type D: This is the rarest type, and also the most severe. In Type D, the esophagus is in two unconnected segments, and both segments have separate tracheoesophageal fistulas.

How common is esophageal atresia?

As congenital malformations go, esophageal atresia is relatively common, occurring in approximately 1 in 3,500 babies. About 85% of these are Type C. Other variations account for about 2% to 7% each. About half of babies with EA have one or more additional birth defects. Only 1% are associated with a genetic syndrome. EA occurs in 25% of babies with Edwards syndrome and 20% with VATER syndrome.

What are the symptoms of esophageal atresia?

Healthcare providers learn to recognize esophageal atresia by the “three Cs”:

• Coughing.
• Choking.
• Cyanosis (a bluish tint to the skin, a sign of low oxygen).

Additional signs and symptoms can include:

• Foamy mucus in your baby’s mouth.
• Excess saliva, spitting up or drooling.
• Gagging when attempting to feed.
• Respiratory distress.

While many different esophageal disorders can cause swallowing difficulties for babies, most don’t cause breathing difficulties the way esophageal atresia can. Both difficulties showing up together usually indicates EA with TEF.

What is the main cause of esophageal atresia?

Esophageal atresia is a congenital malformation, which means something forms differently during fetal development, leaving a defect that’s present at birth. In typical fetal development, the esophagus and trachea begin as one tube, which later separates. Esophageal atresia (and often, tracheoesophageal fistula with it) occurs when this tube doesn’t finish developing and separating. This is the main cause.

What causes this developmental process to stall is another question. Researchers aren’t sure what the specific causes are, but they suspect genetic and environmental factors are involved. Genetic mutations are changes to your baby’s DNA that affect the way your baby develops. Mutations can be random or partly inherited. Environmental factors, like substances and stress, can make mutations more likely.

Are there particular risk factors associated with esophageal atresia?

Researchers haven’t identified the specific environmental factors that may be involved in triggering esophageal atresia. But they’ve observed certain commonalities among babies born with EA. These common factors aren’t direct causes, but they may indirectly raise the risk of EA. They include:

• Advanced maternal age (over 35) and/or paternal age (over 40).
• Assisted reproduction technologies, such as IVF (in vitro fertilization) or IUI (intrauterine insemination).
• Multiple births.

EA also commonly occurs with other congenital malformations and genetic syndromes. If a fetus was diagnosed with one of these conditions before birth, there’s a higher chance it may be born with esophageal atresia, as well. Some of the other birth defects and syndromes commonly associated with EA include:

• Trisomy (13, 18 or 21).
• VACTERL association.
• CHARGE syndrome.
• Congenital heart disease, especially ventricular septal defects, patent ductus arteriosus and tetralogy of Fallot.
• Other gastrointestinal (GI) atresias, including duodenal atresia, intestinal malrotation and imperforate anus.
• Kidney and genitourinary defects, such as horseshoe kidney or hypospadias.
• Spinal malformations, such as tethered spinal cord.
• Limb malformations.

How is esophageal atresia diagnosed?

Only a minority of fetuses are diagnosed with EA before birth. Prenatal diagnosis is more likely when the fetus has other abnormalities that are detectable before birth, which may lead to further tests. But early signs of EA can appear on your prenatal ultrasound even if no other conditions are evident. These signs typically appear on your standard 20-week ultrasound, which is also called an anatomy scan.

The most common prenatal sign of EA is that there’s more amniotic fluid around the fetus than there should be (polyhydramnios). Since the fetus usually swallows some of this fluid, too much left over suggests the fetus may not be able to swallow it. Your provider might also notice that the fetus’s stomach isn’t filled (small or missing stomach bubble). They might suggest following up with a fetal MRI (magnetic resonance imaging).

If your healthcare provider suspects EA before your baby is born, they’ll be able to test for it immediately after. If they don’t suspect it before birth, they’ll likely notice the signs soon after. The procedure to check for EA is to attempt to pass a tube from your baby’s mouth or nose through their esophagus to their stomach. If this passageway is closed (atresia), the tube won’t reach their stomach.

Your healthcare provider can confirm the diagnosis and determine the type of EA by taking X-rays. This will tell them the nature of the defect and whether your baby has fluid in their lungs or air in their stomach. After diagnosing esophageal atresia, your healthcare provider will check for other congenital malformations that commonly occur with it. Some of these may need treatment first, before your provider can treat EA.

Can esophageal atresia be fixed?

Most of the time, surgery can fix the abnormality soon after your baby is born. Some babies may need to stay a little longer in the hospital, receiving nutrition and breathing support, before they’re ready for the operation. They may need more time to grow if they were born prematurely or if their esophagus is too short to repair. Some may need treatment for other life-threatening conditions first, like heart malformations.

How can a baby eat with esophageal atresia?

Babies with esophageal atresia will need medical assistance to eat until the abnormality can be fixed. Their healthcare providers will schedule surgery to correct it as soon as possible. In the meantime, they’ll receive nutrition through a tube (enteral nutrition) or a vein (parenteral nutrition). This will continue during their surgery and recovery, until they can safely transition to mouth feeding.

What is the treatment for esophageal atresia?

Treatment for esophageal atresia includes stabilizing your baby’s breathing, providing safe nutrition and, ultimately, repairing the malformation through surgery. Some babies may be in the hospital longer than others.

Initial management

Immediate interventions for EA include:

• Suctioning of fluids from your baby’s esophagus.
• Installing a breathing tube to protect their airway.
• Installing a feeding tube or IV to deliver nutrition and fluids.
• IV antibiotics to prevent or treat pneumonia.

Extended neonatal care

Some babies may need to spend more time in the neonatal intensive care unit (NICU) before they’re ready for esophageal atresia surgery. This includes babies born prematurely, babies with multiple congenital malformations and babies with long-gap esophageal atresia (LGEA). Long-gap EA means that the two segments of the esophagus are too far apart to connect in surgery. They need more time to grow and close the gap.

Traction process for LGEA

Sometimes, healthcare providers can speed up the growth process for babies with long-gap EA using a type of traction. In this process, a surgeon places stitches on the two ends of your baby’s esophagus and threads them through a small incision in your baby’s back. Here, they can access the stitches and control their tension. Applying gentle traction encourages the esophagus segments to grow together faster.

Surgical repair

Your baby’s healthcare team will determine when they’re ready for surgery. The goals of esophageal atresia surgery are to:

• Connect separate segments of the esophagus together (anastomosis).
• Close off any connections between your baby’s esophagus and airway.

Depending on your baby’s condition, they may have one surgery for all of this, or they may have surgery in stages, addressing the fistulas first.

Surgery on your baby’s esophagus is called thoracic surgery. Thoracic means in their chest. When possible, surgeons use minimally invasive surgery methods to repair esophageal atresia. This means they access your baby’s chest through small incisions instead of opening it up. A surgeon inserts a small video camera (thoracoscope) through one micro-incision and operates through another, guided by the video.

Recovery and follow-up

After surgery, your baby will return to the NICU to recover. After several days, they’ll have an imaging test to look inside their esophagus and see how it’s healed. The test is called an esophagram. It’s a type of video X-ray (fluoroscopy) that looks at what happens when fluids pass through their esophagus. When fluids pass through without leaking, your baby will be ready to transition to oral feeding.

Your baby will need a little practice to learn to feed by mouth, and their healthcare team will monitor the process closely. They may continue to have some difficulties swallowing. Babies’ esophageal muscles might not work quite as they should. This can be a result of the original congenital malformation, a side effect of surgery or both. Their healthcare team will want to make sure they can get enough nutrition orally.

Surgery complications

Rarely, the repaired esophagus may continue to leak even after it’s had ample time to heal. This means the anastomosis failed for some reason. An anastomotic leak would require a second surgery to fix it.

Another possible complication is that the esophagus develops excessive scar tissue at the site of the anastomosis, which makes it too narrow (esophageal stricture). It might need stretching after surgery.

Can babies survive esophageal atresia? What is their life expectancy?

Esophageal atresia alone is rarely fatal. Babies who are born prematurely, or who have other life-threatening conditions — like a heart abnormality — are more at risk. The survival rate for babies who receive treatment and don’t have other compromising conditions is near 100%. The survival rate for babies with either major heart abnormalities or birth weights below 3.5 lbs (1.6 kg) is 80%. For babies with both factors, it’s 50%.

What is life like for babies after esophageal atresia?

While most children recover well and grow to adulthood, some may have lingering side effects from the esophageal atresia and the surgery to fix it. These conditions often improve over time, but they’re likely to require some additional treatment for at least a few years, if not longer.

Common long-term side effects include:

• Tracheomalacia. This means that the cartilage in their trachea (windpipe) is weak, causing the windpipe to partially collapse. It can cause wheezing or noisy breathing, sleep apnea and shortness of breath. Shallow breathing makes children more susceptible to airway infections, like pneumonia and bronchitis.
• Swallowing difficulties. Your child may continue to have some esophageal dysmotility — difficulties activating or coordinating their esophageal muscles. This can make eating difficult, especially when children transition to solid foods. You may need to pay special attention to what you feed them, make solid pieces smaller and make sure to serve them with ample liquids.
• Gastroesophageal reflux disease (GERD). Esophageal dysmotility can also make chronic acid reflux more likely. The lower esophagus muscles may not be able to effectively keep stomach acid from rising into your child’s esophagus. This can cause uncomfortable symptoms, and over time, it can damage their esophagus tissues. Children may also inhale (aspirate) acid particles and damage their trachea. GERD occurs in up to half of children treated for esophageal atresia.

How can I continue to support my child’s health after treatment for esophageal atresia?

Every child is different, and some children have more challenges than others following treatment for esophageal atresia. You can continue to consult their healthcare team for personal advice and support.

Some things they might advise include:

• Delayed weaning. For children with swallowing difficulties, the International Dysphagia Diet Standardization Initiative (IDDSI) has written specific guidelines for introducing solid foods in stages, beginning at age 3.
• Consulting a specialist. A speech-language pathologist (SLP) can help train children to use their swallowing muscles more effectively.
• Vaccination. Since children treated for EA are at a greater risk of chest infections, their healthcare team may recommend vaccines against the influenza (flu) virus and the pneumococcal bacterium, which can cause pneumonia.
• GERD reevaluation. Your child may have a prescription to treat GERD, but medication isn’t always enough. It’s worth checking as they get older to see if GERD is damaging their tissues. If it is, a minor procedure can help stop it.

A note from Cleveland Clinic

It’s scary when your new baby is born with an abnormality requiring emergency treatment. But for most babies, the emergency is brief. Your healthcare team will care for them until surgery can repair the malformation and restore natural breathing and swallowing. After surgical repair, your child may have some continued difficulties related to swallowing, breathing and respiratory infections, especially in the first few years. But with ongoing care and attention, most children grow up to have relatively typical lives.