Aberrant right subclavian artery at 16 to 23 + 6 weeks of gestation: a marker for chromosomal abnormality.

OBJECTIVES This study was carried out to determine the feasibility of defining the position of the right subclavian artery (RSA) by fetal echocardiography between 16 and 23 weeks of gestation, and the association between an aberrant right subclavian artery (ARSA) and chromosomal and cardiac defects. METHODS We examined the position of the RSA in all patients who attended our unit for a fetal cardiac scan. The assessment was carried out using a transverse view of the fetal chest sweeping up from the level of the aortic arch, using color flow mapping. An ARSA was diagnosed when this vessel was not seen in the normal position and an arterial vessel was seen crossing behind the trachea towards the right arm, arising as a fourth branch of the aortic arch, at a lower level than normal. RESULTS The course of the RSA could be identified in more than 95% of the 2799 fetuses examined between 16 and 23 + 6 weeks of gestation. An ARSA was found in 43 fetuses. The incidence was 1.5% in normal fetuses, 28.6% in fetuses with trisomy 21, 18.2% in fetuses with trisomy 18 and 8% in fetuses with other chromosomal defects. There was an association between an ARSA and cardiac defects in seven of the 43 fetuses (16%), and three of these seven fetuses had a normal karyotype. CONCLUSIONS Assessment of the RSA by a fetal cardiologist is possible in almost all cases. The finding of an ARSA is much more common in fetuses with chromosomal defects, in particular trisomy 21 (where the prevalence of an ARSA was 29%), compared with euploid fetuses. Moreover, the presence of an ARSA may be associated with an increased incidence of intracardiac malformations. Examination of the position of the RSA is likely to become a routine ultrasound marker for chromosomal abnormalities in the second trimester of pregnancy.