Esophageal atresia and tracheoesophageal fistula are congenital malformations of the esophagus that often occur together. These rare defects, which affect in roughly one in 3,000 to 4,000 U.S. newborns each year, can lead to severe feeding and breathing difficulties. Thankfully, surgery can repair the problem and help your baby get the nourishment he needs to flourish.
What does it mean to have a malformation of the esophagus?
The esophagus is the muscular tube that carries food and liquids from the mouth to the stomach. When the esophagus has a malformation, it can be missing a connection to the stomach or doesn’t connect to the stomach fully or correctly. That can make it harder or impossible for food to reach the stomach and be digested.
What is esophageal atresia?
Esophageal atresia (EA) is a malformation of the esophagus that forms during pregnancy. The condition occurs when the upper esophagus ends in a pouch instead of connecting to the lower esophagus and the stomach. This causes a baby’s food to be sent to the pouch instead of the stomach, making it impossible for food to be digested properly.
Roughly 90 percent of babies born with EA also have a second malformation, tracheoesophageal fistula (TEF).
What is tracheoesophageal fistula?
Tracheoesophageal fistula (TEF) is a similar malformation that usually occurs alongside EA. In TEF, the esophagus mistakenly connects to the windpipe, or trachea — a tube that brings air to and from the lungs. In a majority of cases (over 80 percent), it’s the lower part of the esophagus that’s connected to the trachea. TEF can cause food or liquids to travel to a baby’s lungs when swallowing instead of to the stomach.
What causes esophageal atresia and tracheoesophageal fistula?
EA and/or TEF are congenital abnormalities, meaning they form during pregnancy. Early in pregnancy, around 4 weeks, a baby’s esophagus and trachea start off as a single tube that then normally divides by around 8 weeks with a wall that forms and separates the two tubes. When the tube doesn’t separate, EA and/or TEF can be the result.
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Experts don’t fully understand what causes EA and/or TEF, though it’s thought that genetic and environmental factors could play a part. In some cases, EA and/or TEF occur alongside congenital heart defects or certain kidney problems.
Symptoms of esophageal atresia and tracheoesophageal fistula
EA and/or TEF cause problems with eating and breathing that usually become apparent shortly after birth. (If a baby only has one of the conditions, EA is usually noticed sooner than TEF.) The condition makes it difficult or impossible for food or liquids to pass from the esophagus to the stomach, which can cause symptoms including:
- Feeding problems, including bluish skin while feeding
- Excessive drooling or spit-up
- Frothy mucus around the mouth
- Choking or vomiting, especially when a baby tries to feed
- Trouble breathing
If a doctor suspects that a baby has EA and/or TEF, they’ll diagnose the problem by trying to insert a feeding tube through a baby’s nose or mouth. If the feeding tube isn’t able to reach a baby’s stomach, an X-ray will be ordered to confirm the EA and/or TEF diagnosis. In many cases, the conditions can also be detected via ultrasound during pregnancy.
Treatment for esophageal atresia and tracheoesophageal fistula
When a baby is diagnosed with EA and/or TEF, doctors schedule surgery as soon as possible so that the baby can eat and his lungs don’t get damaged — often within 24 to 48 hours after birth.
During surgery, which is done under general anesthesia, surgeons repair the esophagus so that it connects correctly from the throat to the stomach, and the fistula will also be closed up. The repair will help a baby feed normally, though in some cases, a baby might need to undergo multiple surgeries to fully correct the problem.
If no other problems or birth defects are present, the chances are high that a baby with EA/TEF will recover fully. However, they might be at increased risk for gastroesophageal reflux disease (GERD) and related complications of the esophagus (like early esophagitis), respiratory complications like recurrent wheezing or poor growth. In those cases, medications and ongoing care from specialists may be needed.
About half of babies with EA and/or TEF have other birth defects that may also need to be addressed. Congenital heart defects are among the most common, but gastrointestinal abnormalities and defects of the urogenital tract can also occur. Your baby’s pediatrician will determine how best to manage additional defects alongside the EA and/or TEF.
The prospect of EA and/or TEF can be worrisome, especially because it requires surgery so shortly after birth. Working with an experienced neonatal care team can ensure your baby gets the care that she needs, so he can go on to feed and grow normally.
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