Premium
Prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect
Author(s) -
Paladini D.,
Pacileo G.,
Palmieri S.,
Russo M.G.,
Conti A.,
Piccola B.D.,
Martinelli P.
Publication year - 1998
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1998.11010068.x
Subject(s) - medicine , digeorge syndrome , prenatal ultrasound , prenatal diagnosis , fetus , heart defect , obstetrics and gynaecology , obstetrics , fetal heart , pregnancy , cardiology , heart disease , psychiatry , genetics , biology
A case of prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect is described. This type of chromosomal aberration has been shown to be present in up to 30% of isolated conotruncal anomalies and in most cases of DiGeorge and velocardiofacial syndromes. The implications of such a diagnosis on prenatal counselling are discussed. Copyright © 1998 International Society of Ultrasound in Obstetrics and Gynecology