What are esophageal atresia symptoms?

Esophageal atresia symptoms typically appear in babies almost immediately after birth. In most cases, they cannot swallow breastmilk, bottled milk or even their own saliva, and food cannot get to their stomach to be digested. 

The most common esophageal atresia signs and symptoms include:  

• Difficulty breathing or respiratory distress
• Coughing  
• Choking when swallowing or trying to eat 
• Frothy, white bubbles coming from the mouth 
• Inability to successfully feed by mouth 
• Very round, full belly (from gas being trapped there) 
• Bluish color to the skin, especially when the baby is eating 
• Clinician is unable to pass a tube from the baby’s mouth into their stomach

What causes esophageal atresia?

While the direct cause of esophageal atresia (EA) is unknown, research suggests there may be both environmental and genetic factors involved. CHOP’s Division of Human Genetics is actively researching potential esophageal atresia causes to provide the most informed counsel to our families.  

What are the risk factors of esophageal atresia?

The direct cause of esophageal atresia (EA) has yet to be determined, but there are known risk factors that are both environmental and genetic in nature. Roughly half of EA cases occur with other birth defects and genetic syndromes.  

Common esophageal atresia risk factors may include:  

• Advanced age of a baby’s parents: Maternal age beyond 35 years and/or parental age beyond 40 may increase the risk of EA.   
• Assisted reproductive technology (ART): Technologies including IVF (in vitro fertilization) and IUI (intrauterine insemination) may lead to a greater risk of EA.  
• Chromosomal abnormalities: Anomalies including Trisomy 18 and 13 and Trisomy 21 (Down syndrome) are commonly associated with EA.  
• Congenital heart disease (CHD): CHD is the most common type of birth defect, affecting 1 in 100 babies born in the U.S.  
• Hypospadias: This condition affects the penis and can appear as a lower-than-normal position of the opening through which a child urinates, a bend to the penis or an incompletely formed foreskin.
• Intestinal malrotation and volvulus: As a fetus is growing, intestinal malrotation occurs when the intestine does not make the turns that it should as it is forming. As a result, volvulus is the problem that occurs after the baby is born, making the intestine twisted, causing blockage and digestion issues.  
• Tethered spinal cord syndrome: This condition occurs when the spinal cord becomes stuck to the tissue around it, rather than floating freely, like it should. 
• VACTERL association: Also known as VATER syndrome, this is a group of conditions that occur together, impacting several organs and systems (including the esophagus) and is sometimes linked to EA.

How is esophageal atresia diagnosed?

Diagnosis of esophageal atresia (EA) typically occurs shortly after birth when symptoms first appear. In these cases, clinicians perform a physical examination of the baby, collect a medical history, perform tests and conduct imaging to determine how the child’s esophagus is potentially impacted.  

Methods for diagnosing esophageal atresia in newborn babies include: 

• Rigid bronchoscopy and esophagoscopy: For these tests, a physician uses an endoscope and a small camera to look into the baby’s trachea and esophagus. This allows them to see how far apart the two parts of the esophagus are from each other. It also shows if there are any connections between the trachea and esophagus. These tests play a very important role in helping doctors pinpoint the specific type of EA and/or TEF and are the first step to creating a tailored care plan. 
• X-rays with a nasogastric tube: For this test, a clinician will insert a nasogastric tube (NG tube) into the baby’s nose and 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 a child has EA — doctors can use X-rays to see the blockage and its location. X-rays can also show if there is gas in a baby’s stomach, which is a sign of a connection between the lower part of the esophagus and the baby’s windpipe. 
• Pediatric ultrasound: A pediatric ultrasound is painless and uses sound waves to produce images of the organs and soft tissues inside the body that can be viewed live on a computer screen. 
• Fetal ultrasound: While most babies with EA are diagnosed after birth, as prenatal imaging has improved, some babies are now diagnosed before birth with high-resolution fetal ultrasound. 

How is esophageal atresia treated?

A diagnosis with esophageal atresia (EA) requires surgical repair. In some cases, multiple procedures may be needed. The main goal of esophageal atresia surgery is to connect the two ends of the esophagus to create a functioning channel between the back of the throat and the stomach for safe swallowing.  

The type of surgery needed will depend on the type and severity of the diagnosis, along with a baby’s overall health. If a baby has any heart conditions or is premature, those factors will be considered in a tailored care plan. 

Common esophageal atresia treatment methods include:  

• “Primary” repair: Primary repair of EA is the standard surgery used for less severe forms of the condition, typically used when the two ends of the esophagus are not very far apart. In some cases, a child’s surgeon may recommend waiting to allow more time for the esophagus to grow closer together as the baby develops. This operation may be performed with minimally invasive surgical incision whenever possible. 
• Staged surgical repair, also called the Foker process: If the two ends of the esophagus are farther apart (“long gap”) and have not grown closer together, a staged process may be recommended, which breaks the surgery into stages or steps. Using this approach, surgeons carefully guide the growth of the two ends to bring them together. 
• Esophagostomy or “spit fistula”: An opening in the neck or chest is created and connected to the upper esophagus to allow spit to leave the body safely. This may be needed if a primary or staged repair is not possible. Many children with this can also learn to eat for practice while being considered for a replacement of the esophagus.

What is the prognosis of babies with esophageal atresia?

While rare, esophageal atresia (EA) is treatable in nearly all cases and is rarely fatal. The survival rate for babies born with EA without other associated birth defects is more than 95%. However, if a baby’s EA is paired with other birth defects, mortality risk can increase. Surgical repair is the most common treatment for EA, after which most children can live normally and thrive with ongoing support from a dedicated healthcare team.  

What are the long-term effects of esophageal atresia?

Common challenges or long-term effects of esophageal atresia (EA) in children can include:  

• Difficulty swallowing and eating: This is typically the biggest priority for families to address following surgical repair of EA. Most children with EA learn to eat by mouth with the support of surgical dietitians and speech therapists. 
• Gastroesophageal reflux disease (GERD): Very common after EA surgery, GERD is treated with medications prescribed by the surgical/medical team. For severe cases, an operation called a fundoplication may also be indicated, which involves wrapping the top of the stomach around the lower esophagus to reinforce the valve and prevent stomach contents from backing up. 
• Esophageal stricture: This occurs when scar tissue at the surgical site causes the esophagus to narrow. This may make it more difficult for a baby to swallow food and is treated by a procedure to widen (also called dilate) the esophagus. 
• Tracheomalacia: Also known as a “floppy airway,” this causes an unstable windpipe that makes breathing difficult. All babies with a history of EA have some degree of tracheomalacia ranging from mild to severe. Mild cases may be treated with nebulizers and close pulmonary follow-up, while more severe cases may require surgery. Some babies may be recommended for tracheomalacia surgery at the time of EA repair.

What long-term care is needed after esophageal atresia treatment?

After surgical repair of esophageal atresia (EA), most infants require specialized follow-up care and ongoing symptom monitoring by caregivers. Children with a history of EA should be closely tracked throughout their development for growth, respiratory health and potential issues like gastroesophageal reflux disease (GERD) and strictures (narrowing). 

While every child’s esophageal atresia treatment plan is different, ongoing or long-term methods of care may include:  

• Follow-up care: A few weeks after a baby is treated for EA with surgical repair, they will need to return for a follow-up visit. At this visit, a surgeon will typically ensure the incision is healing and recovery and growth is progressing as expected. If additional services are needed, such as nursing visits, early intervention services, speech therapy, physical therapy and occupational therapy, those will be coordinated by support staff.  
• Specialty care: Based on a child’s unique needs, specialty care may be advised. At CHOP, a child may be referred to the Esophageal and Airway Treatment (EAT) Program which brings together CHOP’s General Surgery, Gastroenterology, Pulmonology, Otolaryngology (ENT), Nutrition and Speech and Language Pathology into one location at CHOP’s Philadelphia Campus.  
• Preventative care: Children with a history of EA have an increased risk of respiratory infections, and families will likely be advised to follow a vaccination schedule to prevent symptoms. 

CHOP’s areas of expertise and research for esophageal atresia

At CHOP, we’re committed to providing the most current, comprehensive and specialized care possible. For families going through a journey with esophageal atresia (EA), a dedicated care team is there to provide guidance and support every step of the way, beginning with comprehensive examination and advanced diagnostic imaging.  

While most EA cases are diagnosed after birth, CHOP’s Center for Fetal Diagnosis and Treatment can help families prepare for the birth of a baby with EA and create a tailored treatment plan to address the condition immediately.  

At every stage of development, children receive care from an expert team specializing in esophageal atresia in newborn babies and kids. Our pediatric surgeons, surgical advanced practice providers and pediatric anesthesiologists offer the most advanced and individualized surgical repair options. As each child receives long-term monitoring as they grow, they will also have access to any other specialists and support they may need. 

As our care teams are committed to uniquely treating children with EA locally and globally, we also lead the world in clinical innovation, conducting ongoing outcomes-based research that transforms groundbreaking findings into life-changing solutions, so we can bring more healing to patients and families impacted by EA.