Detection rate of trisomy 21 in fetuses with isolated and non-isolated aberrant right subclavian artery.
OBJECTIVE
The purpose of this study was to determine the frequency of chromosomal anomalies among the fetuses with isolated and non-isolated aberrant right subclavian artery (ARSA), and to evaluate the sonographic findings associated with ARSA.


METHODS
This is a retrospective study conducted during the period between January 2008 and December 2012 at the maternal fetal medicine units of three different referral centers.


RESULTS
Among the 148 cases of ARSA, 98 were isolated and 50 were associated with cardiac anomalies, extracardiac malformations or soft markers. Trisomy 21 was the only chromosomal anomaly with a prevalence of 6.8% (10/148). The corresponding rate was 6.1% (6/98) and 8% (4/50) for isolated and non-isolated ARSA, respectively. Cardiac anomalies, extracardiac findings and soft markers were detected in 5.4% (8), 10.8% (16) and 24.3% (36) of cases, respectively. Among the 10 fetuses with trisomy 21, 6 were isolated, 4 were associated with soft markers, 2 were associated with fetal growth restriction and 1 was associated with hydrops fetalis. Cardiac anomalies were not observed in any of these fetuses.


CONCLUSIONS
The prenatal diagnosis of ARSA should prompt meticulous anatomic survey, and karyotype analysis might be offered even in the absence of associated findings.
Department of Obstetrics and Gynecology, Istanbul University Faculty of Medicine, Istanbul, Turkey.
Aytul Corbacioglu
AC
Esmer
Ahmet
A
Gul
Aslı
A
Nehir
Atil
A
Yuksel
Ozlem
O
Dural
Ibrahim
I
Kalelioglu
Recep
R
Has
Tanju
T
Demiroren
D000328:Adult; D000783:Aneurysm / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D018376:Cardiovascular Abnormalities / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D003680:Deglutition Disorders / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D004314:Down Syndrome / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D059785:Karyotype; D011247:Pregnancy; D012189:Retrospective Studies; D013348:Subclavian Artery / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal