Array comparative genomic hybridisation in a fetus with thoracic ectopia cordis: a case report

Abstract

Background . Ectopia cordis (EC) is a rare anomaly characterized by abnormal heart positioning. The exact etiology remains unknown, is likely to be associated with genetic and environmental factors. The introduction of an array-based comparative genomic hybridization (a-CGH) test has broadened our understanding of the genetic basis of many fetal anomalies, providing a more precise characterization of imbalances and allowing the comparison of the phenotype with other patients displaying imbalances in the same region. We report a rare case of ectopia cordis associated with the coexistence of a rare deletion in chromosome 19. Case presentation . A 28-year-old primigravida was referred to our hospital for abortion. Ultrasonography was performed to establish a gestational