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Fetal right aortic arch: associated anomalies, genetic anomalies with chromosomal microarray analysis, and postnatal outcome.
- Source :
- Prenatal Diagnosis; Apr2017, Vol. 37 Issue 4, p329-335, 7p
- Publication Year :
- 2017
-
Abstract
- <bold>Objectives: </bold>The aim of the study was to assess the associated prenatal findings, genetic anomalies with chromosomal microarray analysis (CMA) and postnatal outcome of fetal right aortic arch (RAA).<bold>Methods: </bold>This retrospective study reviewed 92 fetuses diagnosed with RAA and the findings of CMA using Affymetrix CytoScan HD array in our institution between 2013 and 2016.<bold>Results: </bold>Postnatal data were not available for six cases, and genetic data were not available for 26 cases. Tetralogy of the Fallot was the most frequently associated anomaly. Among the 60 fetuses with known karyotype, one was 46, X, Yqh+, der(13)t(8;13)(q22.3;q33.2), one was 47, XYY and the remaining were normal. Our study showed that CMA could detect uncertain significant copy number variants in 5.2% of fetal RAA and pathogenic copy number variants in 5.2%, all of which were microdeletion in chromosome 22q11.21. The genetic anomalies, gestational age at delivery and postnatal death were not significantly different between RAA-no intracardiac anomalies and RAA-intracardiac anomalies group. One infant with aberrant left subclavian artery needed to perform a surgery for respiratory symptom.<bold>Conclusions: </bold>A right aortic arch is associated with 22q11.2 deletion syndrome in approximately 5% of cases, and, therefore, prenatal testing, preferably using CMA, should be offered. © 2017 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]
- Subjects :
- ANEURYSM diagnosis
CONGENITAL heart disease diagnosis
ANEURYSMS
BLOOD-vessel abnormalities
CARDIOVASCULAR system abnormalities
CHROMOSOME abnormalities
CONGENITAL heart disease
FETAL ultrasonic imaging
KARYOTYPES
EVALUATION of medical care
PREGNANCY
SUBCLAVIAN artery
RETROSPECTIVE studies
MICROARRAY technology
MULTIPLE human abnormalities
THORACIC aorta
DISEASE complications
DIAGNOSIS
Subjects
Details
- Language :
- English
- ISSN :
- 01973851
- Volume :
- 37
- Issue :
- 4
- Database :
- Complementary Index
- Journal :
- Prenatal Diagnosis
- Publication Type :
- Academic Journal
- Accession number :
- 122406244
- Full Text :
- https://doi.org/10.1002/pd.5015