Combined tracheal and esophageal atresia with fatal outcome

Purpose: Congenital tracheal atresia is a rare anomaly (1:50.000). The defect consists of partial or complete absence of the trachea below the larynx. The lower airway often is connected to the gastrointestinal tract via a distal tracheo- or bronchoesophageal fistula.

Material and methods: This is a case report of an extremely rare combination of tracheal and esophageal atresia with fatal outcome.

Results: A 32 years old women (gravidity 2/parity 0) presented with suspected esophageal atresia in 32+0 weeks of gestation. Secondary diagnoses were gestational diabetes and hypertension. Ultrasound examination revealed polyhydramnios, absent stomach and amniotic sac prolapse. There were no further sonographic abnormalities. Antenatal corticosteroids were given and amniodrainage because of labour was necessary twice (32+2 and 33+4 gestational weeks). Preterm premature rupture of the membranes and labour occurred with 36+5 weeks of gestation. Emergency caesarean section for abnormal fetal blood analysis was conducted, and the newborn was resuscitated because of no audible cry and fetal bradycardia. Despite multiple attempts intubation and ventilation failed. So, resuscitation was stopped after 60 minutes. The autopsy revealed non-ventilated lungs and a combined tracheal and esophageal atresia. A tracheoesophageal fistula below the atresia was found. Therefore, CHAOS did not develop prenatally. There were no further malformations.

Conclusions: Combined tracheal and esophageal atresia can be very difficult to detect prenatally which results in high risk for fatal outcome.