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

Background. Ectopia cordis (EC) is a rare anomaly characterized by abnormal heart positioning. The exact aetiology 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 foetal 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 age of 17th
weeks. A single foetus with isolated ectopia cordis with herniation of the heart
from the right chest has been reported. The patient underwent therapeutic
abortion. Anatomopathological examination of the foetus and whole genome
a-CGH of the DNA of a flap of foetal skin was performed. Based on the cytogenetic analysis, the foetal karyotype was 46, XX. A-CGH analysis has detected
a deletion of the short arm of chromosome 19 in the 19p13.3 band, containing
the OMIM genes: TLE6-2-5, GNA11 and GNA15, S1PR4, and NCLN.
Conclusions. The diagnosis of EC with sonography is important to identify
the main defect and its associated abnormalities. There is no evidence that
EC is a genetically transmitted disease, however, a-CGH analysis may be an
excellent tool in providing adequate counselling for families.