Prenatal diagnosis of laryngotracheoesophageal clefts

Abstract

Seven infants with laryngotracheoesophageal (LTE) clefts who had abnormal prenatal fetal sonographs were reviewed retrospectively to evaluate the antenatal scan characteristics, clinical features at presentation and associated malformations. The prenatal scans demonstrated polyhydramnios, lung cysts and an absent stomach in all. The mode of delivery was by emergency lower segment cesarean section for fetal distress, in all 7 babies. The mean gestational age at delivery was 36 weeks (range 33-38) and intrauterine growth retardation was seen in 4 neonates. A combination of endoscopy, surgery and autopsy confirmed LTE cleft type 4 in 5 patients, type 3 and type 2 in a patient each. Esophageal atresia and lower pouch tracheoesophageal fistula was present in all. Agastria was seen in 4 and microgastria in 3 children. Lung abnormalities were seen in all 7 infants and they included congenital lung cysts (4 patients), absent lung lobulation (3 patients), bronchogenic cysts (2 patients), cystic adenomatoid malformation (1 patient) and bronchoesophageal fistula (1 patient). The mortality was 86% and the sole survivor had a LTE cleft type 2 which was successfully repaired. The diagnosis of LTE cleft must be considered if a prenatal scan demonstrates the triad of: (1) polyhydramnios; (2) absent stomach, and (3) presence of lung cyst. This should lead to a detailed postnatal evaluation and early diagnosis of this uncommon anomaly resulting in early counseling and suitable management.