Fetal right aortic arch: associated anomalies, genetic anomalies with chromosomal microarray analysis, and postnatal outcome.
OBJECTIVE
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).


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Department of Ultrasonic Medicine, Fetal Medical Centre, Guangzhou, China.
Ruan
http://orcid.org/0000-0002-8548-9663
R
Peng
Department of Ultrasonic Medicine, Fetal Medical Centre, Guangzhou, China.
Hong-Ning
HN
Xie
Department of Ultrasonic Medicine, Fetal Medical Centre, Guangzhou, China.
Ju
J
Zheng
Department of Obstetrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Yi
Y
Zhou
Department of Ultrasonic Medicine, Fetal Medical Centre, Guangzhou, China.
Mei-Fang
MF
Lin
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics; D000783:Aneurysm / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology; D001013:Aorta, Thoracic / Q000002:abnormalities*; D018376:Cardiovascular Abnormalities / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology; D025063:Chromosome Disorders / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology*; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology*; D006801:Humans; D007621:Karyotyping / Q000379:methods; D046228:Microarray Analysis; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000453:epidemiology / Q000235:genetics; D012189:Retrospective Studies; D013348:Subclavian Artery / Q000002:abnormalities; D016216:Ultrasonography, Prenatal; D054079:Vascular Malformations / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology*