Prenatal diagnosis of pentalogy of Cantrell
Abstract
Journal of Obstetrics and Gynaecology (1993)13, 36-41 Obstetric case reports Prenatal diagnosis of pentalogy of Cantrell L. De CATTE and C. MARES Akademisch Ziekenhuis, Vrije Universiteit Brussel, Belgium M. VERJANS H. Hart Ziekenhuis, Tienen, Belgium C. FOURNEAU lnstitut Morphologie Pathologique, Loverval, Belgium T h e pentalogy of Cantrell consists of ;I sternal defect and a ventral diaphragmatic hernia causing a thoraco-abdominal ectopia cordis, an apical pericardium defect, an omphalocoele and structural heart defects. Case report At 20 weeks pregnant, ;i 31 year old Cauc;i\i;in primi- gravida was referred for investigation of a large fetal abdominal tumour in . Until then, pregnancy had been uneventful. Fetal biometry suggested a gestational age of 20 weeks. The ahdominal circumference was enlarged and the thorax seemed hypoplastic. A huge omphalocoele (35 mm) containing only fetal liver was observed. The anterior portion of the diaphragm was lacking, resulting in anterior and caudal sliding of the fetal heart and mediastinum into the abdominal cavity (Figure I b). Echocardiographic analysis revealed a ventricular septa1 defect, with an overriding aorta (Figure la). Amniotic fluid volume was normal. Fetal blood sampling and amniocentesis were carried out showing a normal male karyotype. Amniotic fluid and maternal serum a-fetoprotein