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Prenatal diagnosis of interruption of the aortic arch and its association with deletion of chromosome 22q11.
- Source :
-
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2002 Oct; Vol. 20 (4), pp. 327-31. - Publication Year :
- 2002
-
Abstract
- 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.<br />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).<br />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).<br />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.
Details
- Language :
- English
- ISSN :
- 0960-7692
- Volume :
- 20
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
- Publication Type :
- Academic Journal
- Accession number :
- 12383312
- Full Text :
- https://doi.org/10.1046/j.1469-0705.2002.00818.x