Trisomy 18 with Oesophageal Atresia and Distal Tracheo-oesophageal Fistula: Navigating Surgical Decision-making and Palliative Care in a Preterm Neonate

Abstract

Trisomy 18 (Edwards syndrome) is associated with multiple congenital anomalies and substantial neonatal mortality. Oesophageal atresia with a distal tracheoesophageal fistula presents an additional therapeutic challenge in affected infants with complex comorbidities. We describe a female neonate born vaginally at 34 weeks of gestation with a birth weight of 1,105 g and clinical features suggestive of trisomy 18, including micrognathia, low-set ears and clenched fists with overlapping fingers. Hypersalivation and an inability to pass a nasogastric tube prompted radiological assessment, which demonstrated a tube coiled in the proximal oesophageal pouch and air within the stomach, consistent with oesophageal atresia and a distal tracheoesophageal fistula. Karyotype analysis confirmed 47,XX,+18, and echocardiography identified a ventricular septal defect with pulmonary hypertension. Initial neonatal intensive care included continuous suction of the proximal pouch, continuous positive airway pressure, head elevation and intravenous fluids. Following multidisciplinary discussions involving neonatologists, paediatric surgeons and the family, palliative care was prioritised over surgical repair after consideration of the infant’s clinical condition and anticipated prognosis. Progressive respiratory distress and recurrent aspiration developed despite supportive measures, and the infant died on the fifth day of life. This case illustrates the complexity of decisions about potentially corrective surgery in neonates with trisomy 18 and emphasises individualised assessment, multidisciplinary counselling and the integration of parental values into care planning.