History and exam
Key diagnostic factors
common
presence of risk factors
Key risk factors include trisomy 18 and 21 and a family history, which may include Feingold's syndrome (autosomal dominant).
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 antenatal ultrasound. An inability to detect the stomach is suggestive of an oesophageal atresia.
inability to swallow secretions
If an infant cannot tolerate his or her own secretions or feed, this suggests a significant obstruction of the oesophagus. In these patients, an attempt should be made to pass a catheter into the stomach. An inability to do so is highly suggestive of oesophageal atresia.
inability to pass a nasogastric tube
A nasogastric tube coiled in the upper oesophageal 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
laboured respiration
Mild or moderate respiratory distress is a non-specific finding occurring with many conditions in the newborn. Tracheo-oesophageal 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 laboured breathing, this finding is non-specific.
choking
Choking suggests difficulty swallowing or tolerating secretions, but is an extremely non-specific 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, tracheo-oesophageal 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 oesophageal atresia account for less than 1% of the total.[13]
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