Aberrant right subclavian artery as a new cardiac sign in second- and third-trimester fetuses with Down syndrome

The right subclavian artery arises normally as the first vessel from the brachiocephalic artery of the aortic arch. An aberrant right subclavian artery arises as a separate vessel from the aortic isthmus and crosses to the right, behind the trachea. This variant is present in <1% of the normal population; however, in subjects with Down syndrome, an incidence between 19% and 36% was reported. The purpose of this study was to assess the possibility of the detection of an aberrant right subclavian artery in fetuses with Down syndrome.

Fourteen consecutive fetuses with prenatally detected Down syndrome were examined between 18 and 33 weeks of gestation. The presence of an aberrant right subclavian artery was determined by visualization of the transverse 3-vessel trachea view of the upper thorax with color Doppler ultrasonography.

The right subclavian artery was visualized in 100% of fetuses (14/14) with Down syndrome. An aberrant right subclavian artery was identified in 35.7% of trisomy 21 fetuses (5/14). In 1 fetus, the aberrant right subclavian artery was the only abnormal ultrasound finding. In 3 fetuses, an aberrant right subclavian artery was associated with an intracardiac echogenic focus plus additional extracardiac markers. In the fourth fetus, an aberrant right subclavian artery was associated with an atrioventricular septal defect. All 9 fetuses with Down syndrome with a normal origin of the right subclavian artery had additional cardiac and/or extracardiac abnormalities. In 12 cases, pregnancy was terminated; 2 fetuses were live born.

This preliminary study suggests that the in utero identification of an aberrant right subclavian artery may be a new ultrasound marker to be found in fetuses with Down syndrome. Further studies are required to assess the incidence of aberrant right subclavian artery in normal fetuses.