History and exam

Key diagnostic factors

common

maternal history of polyhydramniosis

Polyhydramnios can be an indicator of visceral obstruction due to the fetus' inability to swallow amniotic fluid. In this scenario, the perinatologist assesses for evidence of a stomach bubble on prenatal ultrasound. An inability to detect the stomach is suggestive of an esophageal atresia.

inability to swallow secretions

If an infant cannot tolerate his or her own secretions or feed, this suggests a significant obstruction of the esophagus. In these patients, an attempt should be made to pass a catheter into the stomach. An inability to do so is highly suggestive of esophageal atresia.

inability to pass a nasogastric tube

A nasogastric tube coiled in the upper esophageal pouch may occur. If the diagnosis is unclear, 1 mL of barium may be passed gently under fluorescent control to confirm proximal atresia.

Other diagnostic factors

common

labored respiration

Mild or moderate respiratory distress is a nonspecific finding occurring with many conditions in the newborn. Tracheoesophageal fistula is one of the more rare causes. Respiratory distress should lead to a chest x-ray to aid a proper diagnosis.

coughing

Suggests difficulty swallowing or tolerating secretions. Like labored breathing, this finding is nonspecific.

choking

Choking suggests difficulty swallowing or tolerating secretions, but is an extremely nonspecific finding.

VACTERL association

Can form part of the more extensive VACTERL association, where the infant has 3 or more of the following anomalies: vertebral defects, anorectal anomalies, cardiac defects, tracheoesophageal abnormalities, radial and renal abnormalities, and limb anomalies.[20]

uncommon

cyanosis

This finding is relatively rare, but increasing respiratory distress can present with time as the stomach becomes more distended with air and/or if gastric contents reflux back through the fistula.

Risk factors

weak

trisomy 18 and 21

Present in up to 6% of patients who have associated malformations in other organ systems. Familial or syndromic cases of esophageal atresia account for less than 1% of the total.[13]

family history

Feingold syndrome is an associated disease with a rare autosomal dominant inheritance pattern.[4][14]

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