What Is Esophageal Atresia?

Esophageal atresia (EA) is a congenital condition involving the incomplete formation of the esophagus (the muscular tube through which swallowed food and liquid passes to the stomach). A congenital condition is one that develops in utero (the womb) and is present at birth. When an infant is born with EA, the upper part of the esophagus does not properly connect with the lower esophagus and stomach, preventing swallowed food from passing through normally. 

Esophageal atresia is one of several different types of gastrointestinal atresia (a blockage somewhere along the intestinal tract); EA is the most common type. It’s estimated that 1 in 4100 live births involve an infant with esophageal atresia. In half of those instances, there are other types of congenital malformations present as well.

EA often occurs with a congenital malformation called tracheoesophageal fistula (TEF), which is a condition involving an abnormal connection between the esophagus and the trachea (windpipe). These two conditions (EA and TEF) commonly occur together, or they may be part of a syndrome (a group of medical conditions).

Types of Esophageal Atresia

There are several different types of esophageal atresia, which include:

1. Type A: The upper and lower segments of the esophagus do not connect because their ends are closed with pouches; TEF is not present.
2. Type B: A rare type of EA involving a closed end or pouch at the lower end of the esophagus, and TEF is present, located in the upper part of the esophagus (where the esophagus is abnormally attached to the trachea).
3. Type C: The most common type of EA involving a closed end or pouch, located in the upper part of the esophagus and TEF is present, located in the lower part of the esophagus (where the esophagus is abnormally attached to the trachea).
4. Type D: The most severe and least common type of EA, involving the upper and lower parts of the esophagus, which are not connected to each other; TEF is present at each part of the esophagus (lower and upper) where each is abnormally attached to the trachea.

Esophageal Atresia Symptoms

The symptoms of esophageal atresia are usually noted shortly after birth. These include:

• Coughing or choking (primarily during feeding)
• Frothy white bubbles coming from the infant’s mouth
• Trouble breathing
• Bluish tinged skin (particularly during feeding)
• Pneumonia (from aspirating fluid into the lungs)
• Abdominal distension (expansion due to gas or fluid being trapped) when TEF is present; this is due to air from the trachea being forced into the esophagus and stomach.

Causes

Although the exact cause of esophageal atresia is not well known, experts believe there is a genetic link involved. Nearly half of all infants born with EA have some other type of congenital birth defect. Birth defects that commonly occur along with esophageal atresia may include:

• Genetic defects called trisomy 13, 18 or 21 (chromosomal disorders that may cause intellectual disability or other birth defects)
• Additional conditions of the gastrointestinal tract such as intestinal atresia or imperforate anus, which is a birth defect involving a missing or blocked opening in the anus.
• Congenital heart defects such as tetralogy of Fallot (a condition involving several anatomical defects of the heart) or other heart problems
• Urinary tract problems such as absent kidney, other kidney abnormalities, or hypospadias, a condition in which the opening of the penis is not in the correct position
• Muscular or skeletal defects

Syndrome disorders that may occur along with EA include:

• VACTERL association (occurs in 1 in 10,000 to 1 in 40,000 live births) involves several anomalies, including vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, esophageal atresia, kidney anomalies, radial aplasia (malformation of the radius bone, located in the arm), and limb anomalies. Approximately 19% of infants born with EA also meet the criteria for VACTERL association.
• CHARGE syndrome (occurs in 1 in 85,00 to 1 in 10,000 newborns) a syndrome disorder that affects several areas of the body, including coloboma (a congenital abnormality of the eye), heart defects, atresia of the choanae (a disorder involving blockage of the back of the nasal passage), retardation of mental and/or physical development, genital hypoplasia (incomplete development of the vagina), and ear abnormalities.

Diagnosis

A preliminary diagnosis of esophageal atresia may be suspected prenatally, during a routine pregnancy ultrasound. After birth, the healthcare provider may order that a nasogastric (NG) tube or orogastric tube be placed into the nose or mouth of the infant and passed through the esophagus into the stomach. When the tube is unable to pass easily, EA is considered a probable cause. An X-ray will be done to confirm the diagnosis and to find the precise location of the EA.

Treatment

Treatment of esophageal atresia involves surgery to repair the defect. Before the surgery, continuous suction via a nasogastric tube is aimed at preventing aspiration (inhalation of liquid such as saliva into the lungs) which could lead to aspiration pneumonia. Other treatment modalities before corrective surgery include:

• Placing the infant in a prone position with the head elevated
• Withholding all oral (by mouth) feedings
• Inserting a gastrostomy tube (tube inserted directly into the stomach to administer liquid feedings) if corrective surgery is delayed. The gastrostomy tube also serves to decompress (remove contents of) the stomach, lowering the risk that stomach contents may reflux into the trachea (windpipe).
• Ensuring that the infant is in an optimal physical condition for surgery

Surgery

Once the infant’s condition is considered stable, surgical repair of the esophageal atresia and closure of the tracheoesophageal fistula (if a fistula is present) will be performed. The procedure itself will depend on several factors, including:

• How large the gaps are between the upper and lower esophagus (large gaps require much a more extensive surgical procedure)
• Whether a fistula (TEF) is present
• Other factors

Esophageal Atresia Surgical Procedure
In most of the cases of esophageal atresia (without any other congenital defects) surgery involving a simple repair procedure—called an anastomosis—can be performed. An anastomosis involves connecting the upper and lower esophagus into one consecutive tube.

Esophageal Atresia with TEF

Usually the surgery to repair EA is done very soon after the infant is born. In uncomplicated conditions, both defects (the EA and the TEF) can be done at the same time. The surgical procedure steps include:

1. Anesthesia is given to put the infant to sleep so that surgery is pain free.
2. An incision is made on the side of the chest (between the ribs).
3. The fistula (TEF) between the esophagus and the trachea (windpipe) is closed.
4. The upper and lower parts of the esophagus are sewn together (anastomosis).

When the gaps between the abnormal pouches in the upper and lower esophagus are too large and the upper and lower portions of the esophagus are too far apart, the repair involves more than one surgery, these steps include:

1. The first surgical procedure involves only repairing the fistula (TEF)
2. A G tube will be inserted to provide nutrition for the infant (formula or breast milk is given to the infant through the tube, directly into the stomach).
3. A second surgical procedure (anastomosis) will be performed later to repair the esophagus

Complications

The most common severe complications after surgery include:

• Leakage at the site (where the anastomosis was performed)
• Stricture (abnormal narrowing of a passageway in the body) formation

Other complications after surgical repair of an EA may include:

• Feeding difficulties due to poor gastrointestinal (GI) motility (muscle contractions to move food and fluids along the intestinal tract), which occurs in up to 85% of infants after surgery
• Gastroesophageal reflux disease (GERD) (the return of the contents of the stomach, back up into the esophagus) is the result of poor GI motility, coupled with shortening of the esophagus which impacts the distal esophageal sphincter. The distal esophageal sphincter is the mechanism which normally closes, keeping swallowed food and fluids from moving back up into the esophagus. If GERD is severe, surgical repair of the sphincter may be necessary.

Coping

Coping with the many stressors of having a baby born with a birth defect can be challenging for any parent or family member. It’s important to reach out and get support. Connecting with other parents going through similar challenges can help. It may also be helpful to explore options of getting support from professionals (such as counselors or therapists) when needed. 

There are many online resources to help parents, such as Birth Defects.org, offering a webpage where parents can read stories about other parents dealing with esophageal atresia and tracheoesophageal fistula. There’s also a link to some online parent-run support groups. If you feel you may need professional help, be sure to consult with your healthcare provider.

Taking care of an infant with esophageal atresia requires extraordinary emotional strength. It may involve a sequence of surgical procedures and hospitalizations (particularly when there is more than one congenital defect). As a parent or caregiver, it’s important to take care of yourself so you can go the distance. Enlist the help of friends and family members whenever possible, try to eat a well-balanced diet, get enough sleep and take the time needed to de-stress. Perhaps most importantly, don’t be afraid to ask for help when you need a break.