Prenatal diagnosis of tuberous sclerosis: the use of fetal echocardiography

Prenat Diagn. 1987 Jul;7(6):407-11. doi: 10.1002/pd.1970070606.

Abstract

Fetal echocardiography was used to identify a cardiac rhabdomyoma in the second trimester. The combination of this finding with a maternal history of Tuberous Sclerosis allowed the patient and her family to make a more educated decision regarding termination of the pregnancy. Post mortem examination of the fetus confirmed the prenatal findings. This case report demonstrates the importance of ultrasound evaluation of the fetus at risk of recurrence of a genetic syndrome in which one or more anatomical defects might be seen.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Echocardiography*
  • Female
  • Heart Neoplasms / diagnosis
  • Humans
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Rhabdomyoma / diagnosis
  • Tuberous Sclerosis / diagnosis*
  • Tuberous Sclerosis / genetics