How Is the Diagnosis of Esophageal Atresia Made?

Esophageal atresia (EA) often presents soon after birth with inability to eat. Children with EA often choke and become cyanotic with feeding. Food that is unable to enter the GI tract enters the trachea and lungs. Esophageal atresia may be diagnosed by failure to pass an oro/nasogastric tube (OGT/NGT). X-ray may demonstrate an OGT/NGT coiled in the chest or a blind stomach air pocket. Esophageal atresia may be full or partial and may occur in association with other congenital anomalies such as cardiac anomalies or trachea-esophageal fistulae (TEF). Prenatal ultrasound may show polyhydramnios as the infant is unable to swallow amniotic fluid.

What Is the Most Likely Age for Presentation?

Generally, the diagnosis is made shortly after birth; however, a variant (H-type fistula) exists with a small fistula between the trachea and esophagus which can result in a delayed diagnosis. These children can often present with recurrent aspiration prior to diagnosis of a fistula.

What Is the Incidence of EA?

Esophageal atresia has an incidence of 1 in 3,000–4,000. The incidence of EA/TEF is greater in patients with trisomy 21 and 18.

Idenify the Fistula Variants Presents in Patients with EA/TEF

Five main variants exist for congenital malformations of the esophagus (Figure 20.2).

Figure 20.2 Schematic of the types of five main variants of congenital esophageal malformations and their incidences.

Courtesy of Adam C. Adler, MD. Drawn by J. Daynes

In What Percentage of Patients with EA/TEF Are Other Anomalies Present?

More than 50% of patients with EA/TEF have associated congenital anomalies.

What Anomalies Are Most Commonly Associated with EA/TEF?

The most common association is that of VACTERL/VATER syndrome. VACTERL/VATER is really an association in which certain congenital anomalies are seen grouped together with a significant degree of frequency.

The following anomalies are known to be associated and therefore require diagnostic testing when a patient presents with EA/TEF.

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  V: Vertebral

  
  
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  A: Anal defects

  
  
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  C: Cardiac anomalies

  
  
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  TE: Tracheoesophageal fistulae

  
  
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  R: Renal

  
  
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  L: Limb deformities (often radial absence)

Additionally, numerous other associated anomalies may be present (i.e., cleft lip and palate, gastric wall defects)

What Are the Classic Vertebral Defects in VACTERL Syndrome?

Generally, the defects involve the vertebral bodies which may be absent or incompletely formed. The defects may occur anywhere but are most common in the cervical and lumbar regions. These defects can result in instability of the neck due to incompletely formed vertebral bodies. These children also have an increased incidence of scoliosis as they mature.