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. 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.
Original language | English |
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Pages (from-to) | 327-331 |
Number of pages | 5 |
Journal | Ultrasound in Obstetrics and Gynecology |
Volume | 20 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2002 |
Keywords
- 22q11 microdeletion
- Interrupted aortic arch
ASJC Scopus subject areas
- Obstetrics and Gynaecology
- Radiology Nuclear Medicine and imaging
- Reproductive Medicine
- Acoustics and Ultrasonics
- Radiological and Ultrasound Technology