Prenatal detection of a tetralogy of Fallot with origin of the left pulmonary artery from the ascending aorta in a familial 22q11 microdeletion

Prenat Diagn. 1999 Mar;19(3):260-2. doi: 10.1002/(sici)1097-0223(199903)19:3<260::aid-pd522>3.0.co;2-d.

Abstract

Here we report a case of prenatal diagnosis of anomalous origin of the left pulmonary artery from the ascending aorta associated with a tetralogy of Fallot in a familial form of 22q11 deletion. The mother, who had a normal heart and a velo-cardio-facial syndrome, had a first child with a pulmonary atresia plus ventricular septal defect associated with a 22q11 deletion. Prenatal diagnosis during the second pregnancy identified the above-described cono-truncal anomaly and FISH study showed a recurrent 22q11 deletion. This case illustrates the intrafamilial variability of cardiac involvement in 22q11 deletion as well as the possibility of diagnosing complex cono-truncal malformations during fetal life.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aorta / abnormalities*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Echocardiography
  • Female
  • Humans
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Pulmonary Artery / abnormalities*
  • Tetralogy of Fallot / diagnosis*