Trisomy 18 in a First-Trimester Fetus with Thoraco-Abdominal Ectopia Cordis

Abstract

Introduction: Fetuses with trisomy 18 will occasionally also have ectopia cordis. Case report: A routine ultrasound scan at 12 weeks’ gestation revealed a large fetal anterior thoraco-abdominal wall defect with an extrathoracic heart and a liver-containing omphalocele. Chorionic villus sampling revealed a 47,XY,+18 karyotype. Additional anomalies detected after termination of the pregnancy included a cleft lip and palate and left radial agenesis. Conclusions: The prenatal diagnosis of ectopia cordis associated with aneuploidy can be made in the first trimester of pregnancy. An extrathoracic heart located in a liver-containing omphalocoele should be considered a thoraco-abdominal ectopia cordis rather than pentalogy of Cantrell.

Keywords:

• Anterior abdominal wall defect
• ectopia cordis
• fetal ultrasound
• first trimester
• omphalocele
• pentalogy of Cantrell
• prenatal diagnosis
• trisomy 18

Disclosure statement

The authors reported no potential conflict of interest.

Additional information

Funding

This work was supported by an unrestricted research grant from the Sociedad Profesional de Medicina Fetal ‘Fetalmed’ Ltda., Chile.