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

Area of Science:

• Cardiology
• Pediatric Surgery
• Medical Genetics

Background:

• Ectopia cordis (EC) is a rare congenital anomaly frequently linked with congenital heart disease (CHD).
• Contemporary data on prenatal diagnosis and outcomes of EC are limited.
• This study addresses the need for updated information on EC management and survival.

Purpose of the Study:

• To evaluate current outcomes for fetuses diagnosed with ectopia cordis (EC) prenatally.
• To analyze clinical and echocardiographic features associated with EC.
• To assess perinatal and long-term survival in a cohort managed at two major cardiac centers.

Main Methods:

• Retrospective review of 17 fetuses diagnosed with EC between 1995 and 2014.
• Analysis of clinical data, echocardiographic findings, and perinatal outcomes.
• Categorization of EC as thoracic or thoracoabdominal and assessment of associated congenital heart defects.

Main Results:

• Seventeen fetuses with EC were identified, with 11 thoracoabdominal and 6 thoracic.
• Fifteen cases (88%) had associated congenital heart disease (CHD), most commonly conotruncal defects (n=10).
• Outcomes included 2 terminations, 2 fetal deaths, 2 lost to follow-up, and 11 live births; 3 neonates died postnatally with comfort care, while 8 were actively managed.

Conclusions:

• Prenatal diagnosis of EC often leads to termination or fetal demise.
• Conotruncal anomalies are the most frequent CHD associated with EC.
• Active management and surgical intervention in EC patients can improve survival, though significant long-term morbidity persists.