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OC01.04: The risk of 22q11.2 deletion in fetuses with a right aortic arch and a normal heart
Author(s) -
Volpe N.,
Perolo A.,
De Robertis V.,
Cataneo I.,
Campobasso G.,
Frusca T.,
Ghi T.,
Pilu G.,
Volpe P.
Publication year - 2015
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 - 10.1002/uog.14956
Subject(s) - medicine , intracardiac injection , fetus , aortic arch , prenatal diagnosis , vascular ring , cardiology , fetal echocardiography , digeorge syndrome , pregnancy , radiology , aorta , genetics , biology , psychiatry
Methods A retrospective study from 2004 to 2014 of all fetuses with RAA-no ICA diagnosed prenatally in three referral Centres. A detailed sonogram was obtained in each case, including visualization of thymus and of the head and neck vessel to identify the presence of vascular rings (VR). Karyotype and FISH analysis for the diagnosis of 22q11. 2 deletion were always offered either prenatally or postnatally. A clinical and echocardiographic examination was performed in live births and a post-mortem examination in case of termination of pregnancy.