What is esophageal atresia?
Esophageal atresia (EA) is a rare birth defect in which a baby is born without part of the esophagus (the tube that connects the mouth to the stomach). Instead of forming a tube between the mouth and the stomach, the esophagus grows in two separate segments that do not connect. In some children, so much of the esophagus is missing that the ends can't be easily connected with surgery. This is known as long-gap EA.
EA frequently occurs along with tracheoesophageal fistula (TEF), and as many as half of all babies with EA/TEF have another birth defect, as well. Without a working esophagus, it's impossible to receive enough nutrition by mouth. Babies with EA are also more prone to infections like pneumonia and conditions such as acid reflux. Luckily, EA is usually treatable.
Esophageal Atresia | Symptoms & Causes
What causes esophageal atresia?
There are four types of esophageal atresia (EA):
Type A. The upper and lower segments of the esophagus end in pouches, like dead-end streets that don't connect. Tracheoesophageal fistula (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.
The exact cause of EA is still unknown, but it appears to have some genetic components. Up to half of all babies born with EA have one or more other birth defects, such as:
- Trisomy 13, 18, or 21
- Other digestive tract problems, such 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
- Tethered spinal cord
EA and TEF are also often found in babies born with VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies and limb abnormalities) syndrome. Not all babies born with VACTERL syndrome have abnormalities in all of these areas.
Long-gap EA may also result from surgery to try to fix a milder case of EA, or to repair a TEF.
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
- Blue color of the skin, especially when your baby is feeding
- Difficulty breathing
Esophageal Atresia | Diagnosis & Treatments
How is esophageal atresia diagnosed?
Esophageal atresia (EA) is usually diagnosed shortly after birth when an infant exhibits symptoms such as coughing, choking and turning blue when trying to feed. If the physician is unable to pass a feeding tube all the way into the child's stomach through the nose or mouth, this is a sign of EA. This diagnosis is then typically confirmed with X-rays.
Sometimes, EA is identified before birth if the mother's ultrasound shows too much amniotic fluid or an "absent stomach," which is a sign of this disorder.
How is esophageal atresia treated?
Multiple surgical treatments are available for children with EA, EA/TEF or long-gap EA. Boston Children's offers expertise in innovative approaches to esophageal growth and repair. Your child's treatment plan may include one or more of the following procedures:
The Foker process. This groundbreaking technique stimulates the upper and lower ends of the esophagus to make them grow inside your baby, allowing them to then be joined together after several days or weeks. Boston Children's is the only pediatric hospital that routinely offers the Foker process to treat long gap EA.
The minimally invasive Foker process. For some children, a new minimally invasive version of the Foker process may be an option. As its name implies, the minimally invasive Foker process involves very small incisions on your child’s back and uses minimally invasive instruments and a camera. The surgeon places traction sutures on each end of the esophagus but creates the traction system inside your child’s body by securing the sutures around one of their ribs. Surgeons tighten these sutures every week until the two ends of the esophagus are close enough to attach to each other.
Watch our video series to learn more.
Static internal traction. Your baby may benefit from this procedure, which provides some esophageal growth and can shorten the time your baby must spend under anesthesia.
Dynamic internal traction. This is another method of growing the esophagus that may be applicable in some situations to shorten the time your baby must spend under anesthesia.
Primary anastomosis. This surgical procedure connects the esophageal gap. Our surgeons have treated hundreds of children with EA, giving them the experience and expertise necessary to successfully connect the esophagus in the first operation.
Jejunal interposition. If the Foker process isn't right for your child, jejunal interposition may be an option. Our surgeons have perfected this sophisticated technique, which uses a section of the jejunum (the middle part of the small intestine) as a replacement for the missing section of esophagus. This procedure generally results in shorter stays and fewer complications than alternatives, such as colonic interpositions or gastric pull-ups.
Because children with EA are at higher risk for experiencing acid reflux, Barrett's esophagus (a precancerous condition) and other concerns, they should undergo follow-up endoscopy at least once after surgical repair, as well as if they develop new or worsening symptoms.
How we care for esophageal atresia
Although EA can be life-threatening in its most severe forms and could cause long-term nutritional concerns, the majority of children fully recover if it's detected early. The best treatment for EA is usually surgery to reconnect the two ends of the baby's esophagus to each other. The Esophageal and Airway Treatment Center at Boston Children's Hospital is one of the only programs in the country specifically designed to care for children with all forms of EA. After a diagnosis has been made, our team of experts will meet to review and discuss what they have learned about your child's condition. Then we will meet with you and your family to discuss the results and outline the best treatment options.
Esophageal Atresia | Research & Innovation
Our areas of innovation for esophageal atresia
Until recently, EA was a condition with no truly satisfactory treatment options. Previous treatments involved stressful stretching of the esophagus, drastic repositioning of internal organs such as gastric and colon esophageal interposition. For a child with long-gap EA, the revolutionary Foker process encourages natural growth and lengthening of a child's existing esophagus with the end result being an intact esophagus. The Esophageal and Airway Treatment Center is the world's only center offering the Foker process.
