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Prenatal detection of a tetralogy of Fallot with origin of the left pulmonary artery from the ascending aorta in a familial 22q11 microdeletion
Author(s) -
Saliba Z.,
Le Bidois J.,
Sidi D.,
Kachaner J.,
Bonnet D.
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199903)19:3<260::aid-pd522>3.0.co;2-d
Subject(s) - tetralogy of fallot , ascending aorta , medicine , cardiology , prenatal diagnosis , pulmonary artery , aorta , left pulmonary artery , fetus , pregnancy , heart disease , genetics , biology
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. Copyright © 1999 John Wiley & Sons, Ltd.