Tracheoesophageal Fistula and Oesophagus Atresia - Erler Zimmer

Tracheoesophageal Fistula and Oesophagus Atresia - Erler Zimmer

Clinical History

A 32-year-old female G3P0 (gravida 3, para 0) presented in preterm labor at 25 weeks gestation. Despite an increased fundal height noted by the GP one week earlier, the mother had refused prenatal testing or ultrasound and was lost to follow-up. She delivered a live-born male baby with polydactyly, imperforate anus, excessive drooling, a loud pan-systolic murmur, and a single umbilical artery. The baby faced difficulty feeding and developed increasing respiratory distress, ultimately succumbing to aspiration pneumonia 2 days later.

Pathology

The specimen includes the tongue, larynx, trachea, bronchi, both lungs, and esophagus of the fetus. The trachea and bronchi have been divided in the midline, revealing a fistula just above the bifurcation connecting the distal esophagus to the trachea (arrow). This is identified as a Type C Tracheoesophageal Fistula (esophageal atresia with distal tracheoesophageal fistula). The termination of the esophagus as a blind pouch at the lower extent is challenging to discern.

Further Information

Tracheoesophageal Fistula (TEF), a congenital abnormality, occurs in about 1 in 4000 live births, often associated with esophageal atresia (EA). Type C configuration, comprising esophageal atresia with distal tracheoesophageal fistula, accounts for 86% of cases. TEF is caused by defective lateral septation of the foregut into the esophagus and trachea, often associated with VACTERL or CHARGE syndrome.
Prenatal ultrasound may reveal polyhydramnios, absent/collapsed stomach, and proximal esophageal pouch dilation. Postnatally, symptoms vary, including excessive drooling, respiratory distress, feeding difficulties, and choking. Diagnosis involves the inability to pass a nasogastric tube into the stomach, supported by X-ray imaging. Fluoroscopy with contrast aids in more challenging cases. Treatment requires surgical correction, with a generally favorable prognosis. However, cases with associated chromosomal, prematurity, and cardiac defects pose an increased risk of death.