Prenatal diagnosis of interruption of the aortic arch and its association with deletion of chromosome 22q11

Objectives Differentiation of interruption of the aortic arch (IAA) type A from type B by prenatal echocardiography is possible but difficult. We report nine consecutive cases of the prenatal detection of IAA and evaluate the feasibility of making a correct prenatal diagnosis with fetal echocardiogr...

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Bibliographic Details
Published in:Ultrasound in obstetrics & gynecology 2002-10, Vol.20 (4), p.327-331
Main Authors: Volpe, P., Marasini, M., Caruso, G., Gentile, M.
Format: Article
Language:English
Subjects:
22q11 microdeletion
Aorta, Thoracic - abnormalities
Biological and medical sciences
Chromosome Deletion
Chromosomes, Human, Pair 22
Feasibility Studies
Female
Fetal Diseases - diagnostic imaging
Gynecology. Andrology. Obstetrics
Heart Septal Defects, Ventricular - diagnostic imaging
Humans
Interrupted aortic arch
Management. Prenatal diagnosis
Medical sciences
Pregnancy
Pregnancy. Fetus. Placenta
Ultrasonography, Prenatal
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Summary:Objectives Differentiation of interruption of the aortic arch (IAA) type A from type B by prenatal echocardiography is possible but difficult. We report nine consecutive cases of the prenatal detection of IAA and evaluate the feasibility of making a correct prenatal diagnosis with fetal echocardiography. The incidence of 22q11 microdeletion in our series, detected using fluorescent in situ hybridization (FISH) analysis, was determined. Methods Echocardiography and FISH for the DiGeorge critical region (22q11) were performed in all cases. The findings were confirmed by autopsy (three cases) or at postnatal surgery (six cases). Results On fetal echocardiography we identified six type B cases and three type A. FISH detected microdeletions in 22q11 in five of nine fetuses (four type B cases and an unusual association with type A in one case). Conclusions Our report confirms the feasibility of making a correct prenatal diagnosis of IAA and its different types, based on echocardiographic examination. Furthermore our data are consistent with previous reports indicating that type A and type B are distinct entities. In more than 50% of fetuses with IAA type B, 22q11 microdeletion and DiGeorge or velo–cardio–facial syndromes may be expected. IAA type A is not commonly associated with 22q11 hemizygosity. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology
ISSN:0960-7692
1469-0705
DOI:10.1046/j.1469-0705.2002.00818.x