Definition

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.

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
• 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 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 the baby to cough, choke, and sometimes turn blue. The health care provider will try to pass a small feeding tube through the infant's mouth or nose into the stomach. If the feeding tube can't pass all the way to the stomach, the 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 echocardiogram (ultrasound of the heart) to look for any heart defects
• 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.

• 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, the baby is not fed by mouth. Instead, the baby is fed either:

• Through a gastrostomy tube (G-tube) so that the baby can be fed directly into the stomach, or
• Nutrition given through the veins

Care is taken to keep the 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

The infant may breathe saliva or other fluids into the lungs, causing aspiration pneumonia, choking, and possibly death.

Other complications may include:

• Feeding problems
• Reflux (the repeated bringing up of food from the stomach) 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.

When to Contact a Medical Professional

This disorder is usually diagnosed shortly after birth.

Contact your baby's provider right away if the baby vomits repeatedly after feedings, or if the 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. Abdominal imaging. In: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2019:chap 26.