Fetal cardiac abnormalities: Genetic etiologies to be considered

Prenat Diagn. 2019 Aug;39(9):758-780. doi: 10.1002/pd.5480. Epub 2019 Jul 29.

Abstract

Congenital heart diseases are a common prenatal finding. The prenatal identification of an associated genetic syndrome or a major extracardiac anomaly helps to understand the etiopathogenic diagnosis. Besides, it also assesses the prognosis, management, and familial recurrence risk while strongly influences parental decision to choose termination of pregnancy or postnatal care. This review article describes the most common genetic diagnoses associated with a prenatal finding of a congenital heart disease and a suggested diagnostic process.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations / embryology*
  • Female
  • Fetal Diseases / diagnostic imaging
  • Fetal Diseases / genetics*
  • Heart Defects, Congenital / diagnostic imaging
  • Heart Defects, Congenital / genetics*
  • Humans
  • Pregnancy
  • Recurrence
  • Ultrasonography, Prenatal