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 |
|---|---|
| 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 |
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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
Cite this
Prenatal diagnosis of interruption of the aortic arch and its association with deletion of chromosome 22q11. / Volpe, P.; Marasini, M.; Caruso, G.; Gentile, M.
In: Ultrasound in Obstetrics and Gynecology, Vol. 20, No. 4, 2002, p. 327-331.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Prenatal diagnosis of interruption of the aortic arch and its association with deletion of chromosome 22q11
AU - Volpe, P.
AU - Marasini, M.
AU - Caruso, G.
AU - Gentile, M.
PY - 2002
Y1 - 2002
N2 - 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.
AB - 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.
KW - 22q11 microdeletion
KW - Interrupted aortic arch
UR - http://www.scopus.com/inward/record.url?scp=0036034845&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0036034845&partnerID=8YFLogxK
U2 - 10.1046/j.1469-0705.2002.00818.x
DO - 10.1046/j.1469-0705.2002.00818.x
M3 - Article
C2 - 12383312
AN - SCOPUS:0036034845
VL - 20
SP - 327
EP - 331
JO - Ultrasound in Obstetrics and Gynecology
JF - Ultrasound in Obstetrics and Gynecology
SN - 0960-7692
IS - 4
ER -