Prenatal molecular genetic diagnosis of congenital long QT syndrome by strategic genotyping

Am J Cardiol. 2004 Mar 15;93(6):788-91. doi: 10.1016/j.amjcard.2003.11.061.

Abstract

We demonstrate how genetic testing enabled a molecular prenatal diagnosis of congenital long QT syndrome in a 20-week fetus presenting with fetal bradycardia in the setting of maternal beta-blocker therapy. Before prenatal testing, strategic genotyping, based on a family history of a near drowning, was performed on a 3-generation family with clinically diagnosed long QT syndrome in which the affected mother was pregnant.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Female
  • Genetic Counseling*
  • Genotype
  • Gestational Age
  • Heart Rate, Fetal
  • Humans
  • Infant, Newborn
  • Long QT Syndrome / congenital
  • Long QT Syndrome / diagnosis*
  • Long QT Syndrome / genetics*
  • Near Drowning
  • Pedigree
  • Pregnancy
  • Pregnancy Complications
  • Pregnancy Trimester, Second
  • Prenatal Diagnosis*
  • Syncope