[Prenatal diagnosis of conotruncal heart diseases. Results in 337 cases]

Arch Mal Coeur Vaiss. 2000 May;93(5):583-6.
[Article in French]

Abstract

Prenatal diagnosis of conotroncal disease has developed by examination of the great arteries during morphological foetal ultrasonic scanning in the second term of pregnancy. This study reports the results of a series of 337 of these malformations diagnosed in the foetus over five and a half years. Their incidence with respect to all foetal cardiac malformations is 16.2%. Tetralogy of Fallot and pulmonary atresia with ventricular septal defect make up 56% of these cases, vascular malposition 16%, coarctation with or without interruption of the aortic arch 14%, truncus arteriosus 9% and agenesis of the pulmonary valves 5%. A karyotypic anomaly was found in 28 cases (8.2%) and, in the foetus with a normal standard karyotype, deletion of chromosome 22q11 was identified in 54 out of 237 cases. There was an associated polymalformative syndrome in 29 cases (8.3%). The training of obstetricians has increased the number of antenatal diagnoses of conotroncal abnormalities. Prenatal counselling should be given by a pluridisciplinary team because the association of these malformations with chromosomal abnormalities or with syndromes difficult to diagnose is common.

MeSH terms

  • Cardiovascular Abnormalities / diagnostic imaging*
  • Cardiovascular Abnormalities / embryology*
  • Cardiovascular Abnormalities / genetics
  • Chromosome Aberrations
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22
  • Female
  • Heart Defects, Congenital / diagnostic imaging*
  • Heart Defects, Congenital / embryology*
  • Heart Defects, Congenital / genetics
  • Heart Septal Defects, Ventricular / complications
  • Heart Septal Defects, Ventricular / diagnostic imaging
  • Heart Septal Defects, Ventricular / embryology
  • Humans
  • Karyotyping
  • Pregnancy
  • Pregnancy Trimester, Second
  • Pulmonary Atresia / complications
  • Pulmonary Atresia / diagnostic imaging
  • Pulmonary Atresia / embryology
  • Tetralogy of Fallot / diagnostic imaging
  • Tetralogy of Fallot / embryology
  • Ultrasonography, Prenatal*