ANTENATAL DIAGNOSIS OF PENTALOGY OF CANTRELL IN EAST AFRICA: A CASE REPORT

Introduction: The pentalogy of Cantrell is rare clustering of congenital defects, first described by Cantrell and colleagues in 1958. The exact pathogenesis for the pentalogy remains unknown and no specific genetic abnormalities have been correlated; however, a failure of embryogenesis has been suspected. Case Presentation: We present a case of a 30 year old mother who had ante-natal ultrasonography which confirmed the presence of a single live fetus of 31.5 weeks gestation with severe oligohydramnios and the cardiac silhouette was protruding outside the chest cavity with no covering over the chest wall and no evidence of skin covering. There was no abdominal wall demonstrated and the abdominal contents appeared inhomogeneous with no normal position of the abdominal organs. In view of the ultrasound findings, the patient elected to have induction of labour and delivered by vaginal delivery. The fetus died within 30 minutes of delivery. Postnatal x-ray and autopsy were performed and this confirmed the antenatal ultrasound findings. Discussion: Prenatal ultrasound diagnosis is possible as early as 10 to 12 weeks. Using 2D ultrasound in the first trimester and the adjunctive use of the 3D ultrasound may help to enhance the visualization of the fetal anomalies in different orthogonal planes . Milder forms should be followed up by a multidisplinary team in order to determine the best time for delivery. Conclusion: Pentalogy of Cantrell is an extremely rare congenital malformation who’s exact aetiology is not completely understood. Antenatal detection of these anomalies is important since the prognosis is poorer in patients with complete forms of Pentalogy of Cantrell. We demonstrate in this case report the extremely important role of early antenatal diagnosis of severe congenital abnormalities in these fetuses. By allowing us to diagnose these anomalies early, we are then able to appropriately manage the patient and minimize the psychological trauma to the patient.