Prenatal diagnosis of six major cardiac malformations in Europe--a population based study

Acta Obstet Gynecol Scand. 2001 Mar;80(3):224-8.


Aim: To present data on prenatal diagnosis of six major cardiac malformations in low-risk European populations.

Methods: Data from 12 Eurocat registries on congenital malformations. All registries have multiple sources of information and use the same methods of data collection and coding. The six cardiac malformations included were hypoplastic left heart, tricuspid atresia, single ventricle, Tetralogy of Fallot, transposition of great arteries and common A-V-canal.

Results: There were significant differences in the proportion of cases diagnosed prenatally, with the highest detection rate in France (91% for single ventricle in Paris) and the lowest detection rate in countries without prenatal ultrasound screening (no cases diagnosed prenatally in the Danish registry area). Prenatal detection rate was significantly higher for the three malformations affecting the size of the ventricles (hypoplastic left heart, tricuspid atresia, single ventricle) compared to the other three malformations (46% versus 24%, p<0.001). Time of diagnosis was late, with only one third diagnosed before 24 weeks of gestation. The risk of fetal death seems to be low.

Conclusion: There are significant regional differences in prenatal detection rate of major cardiac malformations in Europe.

MeSH terms

  • Europe / epidemiology
  • Female
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / embryology
  • Heart Defects, Congenital / epidemiology
  • Humans
  • Infant, Newborn
  • Mass Screening
  • Pregnancy
  • Prenatal Diagnosis / statistics & numerical data*
  • Registries
  • Ultrasonography, Prenatal