Esophageal Atresia and Tracheoesophageal Fistula

Esophageal atresia and tracheoesophageal fistula are birth defects that affect the esophagus (food tube) and the trachea (windpipe), causing breathing and digestive problems at birth. The defects occur when these tubes don’t form properly during fetal development.

In most cases, esophageal atresia (EA) and tracheoesophageal fistula (TEF) occur together, a condition referred to as EA/TEF.

Babies born with these defects require surgery after birth. Without treatment, the condition can be life-threatening.

How do esophageal atresia and tracheoesophageal fistula (TEF) affect my baby?

Esophageal atresia (EA)

In babies with esophageal atresia, the esophagus forms in two segments, an upper and lower segment, that aren’t connected.

The upper segment connects to the throat and ends in a pouch. The lower segment connects to the stomach. Because a gap exists between these two segments, nothing fed to the baby by mouth is able to reach the stomach and be digested. A baby with esophageal atresia may cough, choke or drool while feeding, or spit fluids back up.

Tracheoesophageal fistula

In the majority of babies with EA, there is also an abnormal connection between the esophagus and the windpipe, or trachea (the tube that connects the throat to the lungs). Normally, these tubes run side by side and are not connected. This abnormal connection is called a tracheoesophageal fistula (TEF).

As a result of this connection, gastric juices can get into the trachea and reach the lungs, causing the infant to cough, choke and have difficulty breathing. Fluid in the lungs can also cause infections such as pneumonia. If the oxygen levels in the blood become affected, the baby’s skin or lips may turn bluish (known as cyanosis).

In the vast majority of EA/TEF cases, the lower segment of the esophagus is connected to the trachea. With this type of EA/TEF, gastric contents and acid can travel directly into the lungs.

Cause and Prevalence

EA/TEF affects an estimated 1 in 3,500 newborns in the United States.

The exact cause remains unknown. The defects occur when the esophagus and trachea, which begin as a single tube in early fetal development, don’t separate and form properly.

Approximately 50 percent of infants with EA/TEF have additional birth defects or genetic conditions. Heart abnormalities are the most common birth defect associated with EA/TEF, such as atrial and ventricular septal defects or Tetralogy of Fallot.

In about 10 percent of cases, EA/TEF occurs as part of a “constellation” or cluster of abnormalities  known as the VACTERL association, an acronym for the types of birth defects involved: Vertebral (spinal), Anal, Cardiac, Tracheoesophageal fistula, Esophageal atresia, Renal (kidney), and Limb. 

Prenatal Evaluation and Diagnosis

In some cases, doctors may suspect EA/TEF before birth based on a prenatal ultrasound. Symptoms on ultrasound may include an unusually small stomach or an excessive amount of amniotic fluid, indicating a blockage in the baby’s digestive system (preventing the fetus from swallowing amniotic fluid).

If EA/TEF is suspected during pregnancy, you may be referred to a fetal center for further assessment and specialized care.

At Texas Children’s Fetal Center, we arrange for you to visit as quickly as possible for a comprehensive evaluation by a team of specialists experienced in diagnosing and treating these rare birth defects, including maternal-fetal medicine (MFM) physicians, fetal imaging experts, genetic counselors, neonatologists, and surgeons.

Testing may include:

• High-resolution anatomy ultrasound to evaluate the suspected defect and look for other abnormalities
• Ultra-fast MRI for a more detailed view of fetal anatomy and function
• Fetal echocardiogram to evaluate your baby’s heart
• Amniocentesis and chromosomal analysis to identify any chromosomal anomalies

Following this thorough evaluation, our specialists will meet with you about your results, answer any questions your family has, and discuss treatment planning based on your baby’s condition. A diagnosis during pregnancy enables your family and your healthcare team to plan ahead for the special needs your baby may have at birth and arrange for the earliest possible treatment.

Pregnancy and Delivery

If EA/TEF is diagnosed or suspected during pregnancy, you and your baby will be closely monitored with regular ultrasounds to assess fetal development and the risk of premature delivery. Babies with EA/TEF may be born early if amniotic fluid builds up in the uterus, causing it to enlarge. 

Delivery should take place at a hospital with the expertise and resources required to treat newborns with complex airway and digestive defects, including the highest level of neonatal intensive care (NICU), if needed. Texas Children’s Hospital is home to the first NICU to be designated by the Texas Department of State Health Services (DSHS) as a level IV NICU, the highest level of care available for premature and critically ill newborns.

Our fetal center patients also benefit from our close collaboration with Texas Children’s Aerodigestive Program, pediatric specialists in the treatment of babies with these rare birth defects, ensuring the best possible care at delivery and avoiding the need to transfer your newborn during the critical postnatal period. Here, the pediatric experts who care for your child after birth have been an integral part of the care team every step of the way.

Symptoms at Birth

Symptoms of a baby born with EA/TEF may include:

• Inability to swallow normally
• Difficulty breathing, especially when eating
• Coughing, gagging or choking when feeding
• Spitting up frequently
• Excessive drooling
• White, frothy bubbles in the mouth, made up of saliva, mucus and other oral secretions that back up into the mouth
• Blue tint to the skin or lips (cyanosis), especially during feeding
• Flaring of the nostrils when breathing
• Distended abdomen caused by air entering the stomach and intestines

Diagnosis at Birth

In most cases, babies with EA/TEF are diagnosed at birth when symptoms appear.

To confirm the diagnosis, a small tube called a nasogastric or NG tube is gently passed through the newborn’s mouth or nose and guided down the esophagus. If the tube is unable to pass through to the stomach, X-ray is used to locate and confirm the blockage or closure. The X-ray may also reveal gas in the infant’s stomach, confirming an abnormal connection that is allowing air to travel between the windpipe and esophagus.

Babies diagnosed at birth with EA/TEF will undergo additional testing to look for other abnormalities that often occur with these defects.

Testing for associated conditions may include:

• X-rays to identify skeletal abnormalities in the spine, arms or legs
• Ultrasound of the kidneys
• Echocardiogram to assess heart structure and function
• Examination of the anus for malformations

Treatment After Birth

Babies born with EA/TEF require surgery to repair the defects as soon as possible, typically within the first few days after birth. The timing will depend on the newborn’s condition and overall health.

Prior to the repair, the baby will require feeding through an IV (intravenous) line. In addition, a small suction tube will be inserted into the upper esophagus to prevent saliva the baby swallows from going into their lungs.  

Surgery is performed under general anesthesia. During the procedure, the surgeon will:

• close the connection (fistula) between the esophagus and windpipe, and
• connect the two segments of the esophagus to create a normal, continuous tube from the mouth to the stomach.

Following surgery, the baby will remain in the hospital in the NICU until they are able to take food by mouth and are gaining weight, typically a few weeks. 

In some cases, if the ends of the esophagus segments are too far apart to be connected during the initial surgery, other procedures will be performed at later dates, giving the two segments time to grow. A feeding tube may be placed in the stomach during the first procedure to provide nutrition in the interim. 

Long-Term Outcomes

A unique and distinct advantage for mothers delivering at Texas Children’s Pavilion for Women is our location inside one of the largest and most renowned children’s hospitals in the world. For babies with rare birth defects such as EA/TEF, this means no transfers during critical postnatal periods. It also means that the pediatric experts responsible for treating your child after birth have been part of their care team prior to birth.

The Aerodigestive Program at Texas Children’s Hospital is one of the few of its kind in the southern United States. This expert team is dedicated to the comprehensive and multidisciplinary treatment of children with complex airway and digestive tract disorders, including EA/TEF.

The program’s coordinated approach brings together all the expertise your baby will need, including neonatologists, pediatric surgeons, anesthesiologists, otolaryngologists, pulmonary medicine specialists, gastroenterologists, nutritionists and lactation support, among others.

For more information about Texas Children’s Aerodigestive Program, call 832-822-AERO (2376). 

Texas Children’s Hospital is consistently recognized as a leader in pediatric care by U.S. News & World Report, including the best place in the country for children in need of pediatric cardiology, heart surgery and pulmonary care.

Long-term problems for babies with EA/TEF may include:

• Gastroesophageal reflux disease, or GERD, which causes acid to move up into the esophagus from the stomach, leading to a burning or painful feeling (heartburn). GERD can often be managed with medications.
• Difficulty or pain when swallowing, due to scar tissue in the esophagus or poor muscle function, affecting the movement of food through the tube. In some cases another surgery may be needed to open the scar tissue and widen a narrowed esophagus.
• Increased susceptibility to colds and infections, including bronchitis and pneumonia.

Research

Our researchers are continually working to better understand the abnormal fetal development that leads to EA/TEF and the genes that may play a role, in hopes that we may find the cause, improve patient care and outcomes, and ultimately prevent these defects. 

If you are interested in learning more or participating in one of our current research studies, contact Texas Children’s Aerodigestive Program research lab at 832-822-0508.

Why Texas Children’s Fetal Center?

• A single location for expert maternal, fetal and pediatric care. At Texas Children’s Hospital, you and your baby receive the specialized care required for the diagnosis and treatment of esophageal atresia/tracheoesophageal fistula all in one location, avoiding the need to transport your critically ill newborn.
• A skilled, experienced team with proven outcomes. We have a dedicated team of maternal-fetal medicine specialists, fetal imaging experts, neonatologists, pediatric surgeons, and aerodigestive specialists, among many others, who work in concert to care for you and your baby every step of the way, using proven protocols we’ve developed over the years. With their combined expertise and unified approach, this remarkable team offers the best possible care for babies with EA/TEF.
• We care for your child’s needs at every stage of life. Our comprehensive approach starts with your first prenatal visit and continues throughout your child’s delivery, postnatal care, and beyond, thanks to one of the nation’s leading teams of fetal and pediatric specialists for the treatment of rare and complex birth defects of the airway and digestive tracts.

Additional Resources

• Six things to consider when choosing a fetal center