Ectopia cordis in a fetus with mosaic trisomy 16

J Clin Ultrasound. 2010 Sep;38(7):386-8. doi: 10.1002/jcu.20727.

Abstract

Ectopia cordis and mosaic trisomy 16 are two rare fetal anomalies, which have not been reported in association. We report a case of an isolated ectopia cordis at 11(+3) weeks. Subsequent embryological examination confirmed thoracic ectopia cordis with normal heart structure and array comparative genomic hybridization of fetal tissue detected trisomy 16 mosaicism.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Eugenic
  • Adult
  • Chromosomes, Human, Pair 16 / genetics
  • Ectopia Cordis / diagnostic imaging*
  • Ectopia Cordis / genetics
  • Female
  • Humans
  • Mosaicism
  • Pregnancy
  • Trisomy / diagnosis
  • Trisomy / genetics
  • Ultrasonography, Prenatal / methods*
  • Young Adult

Supplementary concepts

  • Chromosome 16, trisomy