Esophageal atresia
Esophageal atresia is a birth defect in which the esophagus does not develop properly. The esophagus is the tube that normally carries food from the mouth to the stomach.
Causes
Esophageal atresia (EA) is a congenital defect. This means it occurs before birth. There are several types of EA. In most cases, the upper esophagus ends and does not connect with the lower esophagus and stomach.
Most infants with EA have another defect called tracheoesophageal fistula (TEF). This is an abnormal connection between the esophagus and the windpipe (trachea).
Often, infants with EA/TEF also have tracheomalacia. When this occurs, the walls of the trachea are weak and floppy, causing high-pitched or noisy breathing.
Tracheomalacia
Congenital tracheomalacia is weakness and floppiness of the walls of the windpipe (trachea). Congenital means it is present at birth. Acquired trac...
At least half of babies with EA/TEF have other defects as well, most often heart defects.
Symptoms
Symptoms of EA may include:
- Bluish coloration to the skin (cyanosis), often with attempted feeding
Cyanosis
A bluish color to the skin or mucous membrane is usually due to a lack of oxygen in the blood. The medical term is cyanosis.
Read Article Now Book Mark Article - Coughing, gagging, and choking with attempted feeding
- Drooling or vomiting
- Poor feeding
Exams and Tests
Before birth, a mother's ultrasound may show more amniotic fluid than usual. This can be a sign of EA or other blockage of the unborn baby's digestive tract. If EA is present, the baby’s stomach may be hard to see on the ultrasound.
EA is usually found shortly after birth when saliva and fluids collect in the esophagus. This causes your baby to cough, choke, and sometimes turn blue. Your baby's health care provider will try to pass a small feeding tube through your infant's mouth or nose into the stomach. If the feeding tube can't pass all the way to the stomach, your infant likely has EA.
An x-ray may also show:
- An air-filled pouch in the esophagus
- Air in the stomach and intestine
Once EA is confirmed, other tests may include:
- An ultrasound of the heart (echocardiogram) to look for any heart defects
Echocardiogram
An echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...
Read Article Now Book Mark Article - Imaging to look for other defects that can occur in the spine, limbs, or kidney
Treatment
EA is an emergency. Surgery is done as soon as possible after birth.
Surgery
Tracheoesophageal fistula and esophageal atresia repair is surgery to repair two birth defects in the esophagus and trachea. The defects usually occ...
- First, any connection between the esophagus and the airway must be blocked. This will prevent damage to the lungs.
- The esophagus will be connected to the stomach. This may take time to complete, depending on the gap between the esophagus and the stomach.
Before the surgery, and for some time afterward, your baby is not fed by mouth. Instead, your baby is fed either:
- Through a gastrostomy tube (G-tube) so that your baby can be fed directly into the stomach, or
- Nutrition given through the veins
Care is taken to keep your baby from breathing saliva or other fluids into the lungs.
Outlook (Prognosis)
An early diagnosis gives a better chance of a good outcome.
Possible Complications
Your infant may breathe saliva or other fluids into the lungs, causing aspiration pneumonia, choking, and possibly death.
Other complications may include:
- Feeding problems
- The repeated bringing up of food from the stomach (reflux) after surgery
- Narrowing (stricture) of the esophagus due to scarring from surgery
Prematurity may complicate the condition. As noted above, there may also be defects in other areas of the body.
Prematurity
A premature infant is a baby born before 37 full weeks of gestation (more than 3 weeks before the due date).
When to Contact a Medical Professional
This disorder is usually diagnosed shortly after birth.
Contact your baby's provider right away if your baby vomits repeatedly after feedings, or if your baby develops breathing difficulties.
References
Dingeldein M. Selected gastrointestinal anomalies in the neonate. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 84.
Rothenberg SS. Esophageal atresia and tracheoesophageal fistula malformations. In: Holcomb GW, Murphy JP, St. Peter SD, eds. Holcomb and Ashcraft's Pediatric Surgery. 7th ed. Philadelphia, PA: Elsevier; 2020:chap 27.
Wolf RB. Fetal abdominal imaging. In: Lockwood CJ, Copel JA, Dugoff L, et al, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice. 9th ed. Philadelphia, PA: Elsevier; 2023:chap 24.
Review Date: 8/5/2023
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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