Prospective diagnosis of 1,006 consecutive cases of congenital heart disease in the fetus

J Am Coll Cardiol. 1994 May;23(6):1452-8. doi: 10.1016/0735-1097(94)90391-3.


Objective: This report describes our experience with fetal congenital heart disease since 1980.

Background: Knowledge and expertise in the diagnosis, management and natural history of fetal congenital heart disease is increasingly demanded by both obstetricians and parents. The analysis of a large series should help the pediatric cardiologist to provide this service.

Methods: The notes of 1,006 patients, where a prospective diagnosis of fetal congenital heart disease was made, were reviewed. The reason for referral, the diagnosis made, the accuracy of diagnosis, the fetal karyotype and the outcome of the pregnancy were noted. The cases were grouped into malformation categories, and the spectrum of disease seen was compared with that found in infants.

Results: Most fetal cardiac anomalies are now suspected by the ultrasonographer during obstetric scanning. A different incidence of abnormalities is seen compared with that expected in infants. Chromosomal anomalies were more frequent in the fetus than in live births. The accuracy of diagnosis was good. The survival rate after diagnosis was poor because of frequent parental choice to interrupt pregnancy and the complexity of disease.

Conclusions: A large experience with fetal congenital heart disease allows the spectrum of disease to be described with accuracy and compared with that in infancy. Knowledge of the natural history of heart malformations when they present in the fetus allows accurate counseling to be offered to the parents. If the trend in parental decisions found in this series continues, a smaller number of infants and children with complex cardiac lesions will present in postnatal life.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Fetal Diseases / diagnostic imaging*
  • Fetal Diseases / epidemiology
  • Heart Defects, Congenital / diagnostic imaging*
  • Heart Defects, Congenital / epidemiology
  • Humans
  • Incidence
  • Infant, Newborn
  • London / epidemiology
  • Pregnancy
  • Pregnancy Outcome / epidemiology
  • Prospective Studies
  • Referral and Consultation / statistics & numerical data
  • Risk Factors
  • Ultrasonography, Prenatal* / statistics & numerical data
  • Videotape Recording