The Fetus with Ectopia Cordis: Experience and Expectations from Two Centers

Maria C. Escobar-Diaz, Sherzana Sunderji, Wayne Tworetzky, Anita J. Moon-Grady

Ectopia cordis (EC) is a rare congenital anomaly often associated with congenital heart disease (CHD). There is a lack of contemporary information on EC diagnosed prenatally. We sought to combine the experiences of two regional referral centers in order to evaluate current outcomes for EC. Clinical, echocardiographic features and perinatal outcomes of fetuses with EC managed at two large cardiac centers from 1995 to 2014 were retrospectively reviewed. Seventeen fetuses with EC were diagnosed at a median gestational age of 23 weeks (range 17-36). There were 6 thoracic EC and 11 thoracoabdominal. Fifteen had associated CHD: 10 conotruncal defects, 2 tricuspid atresia, 1 aortic stenosis, 1 atrial septal defect, and 1 atrioventricular septal defect. There were 2 terminations of pregnancy, 2 fetal deaths, 2 lost to follow-up, and 11 live born. Mean gestational age at birth was 36.4 weeks (range 26-39). Three patients died shortly after birth with comfort care, and 8 were actively managed. Six patients underwent postnatal cardiac intervention and are currently alive with a mean follow-up of 7.3 years (range 1.4-11.4), 2 of them with chronic dependency on ventilatory support. Two patients without CHD died after attempted chest closure. When diagnosed in utero, a high proportion of pregnancy termination or fetal demise is expected. In our cohort, conotruncal anomalies were the most common associated CHD. Though mortality in actively managed patients was not as high as previously reported, and cardiac surgical intervention may be achieved, EC is still associated with high mortality and significant long-term morbidity.