Published by John Wiley & Sons Ltd.Ģ2q11.2 deletion Di George syndrome congenital anomalies prenatal diagnosis right aortic arch ultrasound.Ĭopyright © 2015 ISUOG. 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. The thymus was small or non-visualized in all seven cases and additional abnormal sonographic findings were present in four.Ģ2q11.2 deletion is present in a clinically significant proportion of fetuses with a prenatal diagnosis of RAA-no ICA. The condition affects the part of the aorta called the aortic arch. The bodys main artery is called the aorta. In this condition, part of the bodys main artery or its branches form a ring around the windpipe, the food swallowing tube or both. That means its a congenital heart defect. Genetic or clinical data were not available for three cases and these were excluded from analysis. A vascular ring is a heart problem present at birth. Clinical and echocardiographic examinations were performed in livebirths and a postmortem examination in cases of termination of pregnancy.ĭuring the study period, 85 fetuses were diagnosed prenatally with RAA-no ICA. Karyotyping and fluorescence in situ hybridization analysis for diagnosis of 22q11.2 deletion were always offered either prenatally or postnatally. 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). This was a retrospective study of all fetuses with RAA-no ICA diagnosed prenatally at three referral centers, between 20. To assess the risk of 22q11.2 deletion in fetuses with a prenatal diagnosis of right aortic arch without intracardiac anomalies (RAA-no ICA).
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