OP07.06: Ectopia cordis in prenatal life

Abstract

To assess fetuses with ectopia cordis (ec), association with cardiac and extra-cardiac malformation, chromosomal anomalies, pre and postnatal outcome. In a series of 13.664 fetal echocardiograms performed between May/1993 March/2011 using a Philips HD11EX ultrasound machine, 10 cases had ec. 4D echocardiography was performed in 2 pats. Gestational age ranged between 11–40 weeks. Diagnosis confirmed with postnatal echo and autopsy. The reason for fetal echo was the presence of heart exstrophy in all cases (10). Ectopia cordis was diagnosed in 10 (3.3%) cases out of 623 cardiac malformations. Of these, 6 (60%) had the heart completely outside of the chest and 4 (40%) partially. Cardiac anomalies were detected in 9 fetuses: 2 (22.2%) dorv, 2 (22.2) vsd, 2 (22.2%) tetralogy of Fallot, 1 (11.1%) truncus arteriosus, 1 (11.1% ) avsd, 1 (11.1%), pulmonary atresia. Cardiac anatomy was not visualized in 11 week fetus with further termination of pregnancy. Exomphalos was detected in 7 (70%), gastrochisis in 2 (20%), 2 cystic hygroma (20%) and 1 single umbilical artery (10%). Autopsy in 5 pats showing midline thoracic-abdominal wall defect with extrophia of liver, spleen and bowels. Also absence of sternum, diaphragma and pericardium. Fetal caryotype was performed in 7 pats, normal (6) and trisomy 18 (1). First trimester diagnosis was accomplished in 3 fetuses. Intra-uterine death occurred in (2), neonatal (5), termination of pregnancy (2) e alive (1). Placement of the heart into the chest and closure of thoracic -abdominal wall was carried out in 3 patients. Two had a muscular vsd. One neonate with complete ec had abnormal ventricular filling leading to postoperative death. One with partial ec is alive and has mild asd and the other had postoperative death. Our series showed that ectopia cordis is usually associated with cardiac malformation and defect of toraco- abdominal wall. Conotruncal anomalies was the common cardiac abnormalities worsen the prognosis. We emphasize first trimester diagnosis and better outcome in partial ec.