Premium
Risk of 22q11.2 deletion in fetuses with right aortic arch and without intracardiac anomalies
Author(s) -
Perolo A.,
De Robertis V.,
Cataneo I.,
Volpe N.,
Campobasso G.,
Frusca T.,
Ghi T.,
Prandstraller D.,
Pilu G.,
Volpe P.
Publication year - 2016
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.15766
Subject(s) - medicine , intracardiac injection , fetus , prenatal diagnosis , aortic arch , digeorge syndrome , fluorescence in situ hybridization , pregnancy , radiology , cardiology , aorta , chromosome , genetics , psychiatry , biology , biochemistry , chemistry , gene
Objective To assess the risk of 22q11.2 deletion in fetuses with a prenatal diagnosis of right aortic arch without intracardiac anomalies ( RAA ‐no ICA ). Methods This was a retrospective study of all fetuses with RAA ‐no ICA diagnosed prenatally at three referral centers, between 2004 and 2014. A detailed sonographic examination was performed in each case, including visualization of the thymus and of the head and neck vessels to identify the presence of an aberrant left subclavian artery ( ALSA ). Karyotyping and fluorescence in situ hybridization analysis for diagnosis of 22q11.2 deletion were always offered either prenatally or postnatally. Clinical and echocardiographic examinations were performed in livebirths and a postmortem examination in cases of termination of pregnancy. Results During the study period, 85 fetuses were diagnosed prenatally with RAA ‐no ICA . Genetic or clinical data were not available for three cases and these were excluded from analysis. 22q11.2 deletion was found in 7/82 cases (8.5% (95% CI , 3.8–17.3%)). The thymus was small or non‐visualized in all seven cases and additional abnormal sonographic findings were present in four. Conclusion 22q11.2 deletion is present in a clinically significant proportion of fetuses with a prenatal diagnosis of RAA ‐no ICA . In such cases, a detailed sonographic examination, with assessment of the thymus in particular, may be useful to further define the level of risk for 22q11.2 deletion. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.