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

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.