Prenatal diagnosis of 22q11 deletions: A series of five cases with congenital heart defects

F. L. Raymond*, J. M. Simpson, C. M. Mackie, G. K. Sharland

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

30 Citations (Scopus)

Abstract

We report a series of five patients with congenital heart defects in whom a prenatal diagnosis of 22q11 deletion has been made. The accurate cardiac and cytogenetic diagnoses were made between 20 and 23 weeks' gestation in all cases and the cardiac findings were all confirmed postnatally. The cardiac abnormalities included tetralogy of Fallot with absent pulmonary valve, pulmonary atresia with VSD, common arterial trunk, and left atrial isomerism with double outlet right ventricle. The problems of genetic counselling in these cases are discussed. A recommendation is made to test all fetuses with conotruncal heart abnormalities detected prenatally for a 22q11 deletion, whereas guidelines for other congenital heart disease types are less clear.

Original languageEnglish
Pages (from-to)679-682
Number of pages4
JournalJournal of Medical Genetics
Volume34
Issue number8
DOIs
Publication statusPublished - 1997
Externally publishedYes

Keywords

  • 22q11 deletion
  • Echocardiography
  • Fetal heart
  • Prenatal diagnosis

Fingerprint

Dive into the research topics of 'Prenatal diagnosis of 22q11 deletions: A series of five cases with congenital heart defects'. Together they form a unique fingerprint.

Cite this