Background: Esophageal atresia (EA) is the most frequent and severe congenital anomaly of the esophagus, occurring in 1:2500-1:4500 live births. Five types of EA have been described, EA with tracheoesophageal fistula (TEF) being the most frequent.
Aim: The aim of this paper is to evaluate epidemiological aspects, malformative associations, and prenatal diagnosis in an unusual case series of EA with distal TEF.
Case presentations: The authors are analyzing a series of seven cases of EA with distal TEF. The seven cases of EA with TEF presented occurred during a period of two years, resulting in an unusually increased rate - 1.1:1000 live births. Except a late suspicion of EA (one day before delivery), EA was not diagnosed during prenatal scans despite association with polyhydramnios in two cases and single umbilical artery in four cases. None of the two cases of unilateral renal agenesis or anorectal malformations were diagnosed on prenatal ultrasound scans. In two of the cases, EA was part of VACTERL (vertebral defects, anorectal malformations, heart defects, EA with or without TEF, renal anomalies/dysplasia, and limb defects) association. Despite lack of prenatal diagnosis, postnatal diagnosis of EA was suspected at birth in four cases, at two hours in one case.
Conclusions: An increased index of suspicion for congenital structural defects, particularly for EA, should be maintained in the presence of a single umbilical artery and÷or polyhydramnios on prenatal ultrasound scan. Prenatal diagnosis of EA offers the chance for parental counseling, planned birth and transfer for corrective surgery and decreases the risk for postnatal aspiration pneumonia associated with early feedings.