Prenatal diagnosis of aberrant right subclavian artery: a literature review 

The primary aim of this review is to estimate the prevalence of ARSA both in euploid fetuses as well as in fetuses with Down Syndrome. Secondary objectives were to estimate the association of ARSA with cardiac anomalies and chromosomal defects, especially trisomy 21 and 22q11 deletion (DiGeorge Syndrome). The incidence of ARSA in normal population varies from 0.35% to 3.5%, based on different studies. Since the first reported association between ARSA and trisomy 21 in 2015 until today, several studies have emerged to confirm different degrees of this correlation. Indeed, ARSA appears to be a clinically useful prenatal ultrasound marker for trisomy 21. Particularly, most recent studies concluded that ARSA as a non-isolated finding can be used as screening for Down syndrome. However, when ARSA is an isolated finding, various studies proved that there is no significant correlation with Down syndrome. Apart from these, ARSA appears to be associated with other chromosomal abnormalities, such as 22q11 deletion, cardiac defects and other morphological anomalies. As a conclusion ARSA should be characterized as isolated or non-isolated, as the non - isolated ARSA appears to be a clinically useful marker of Down syndrome and thus, additional testing is required when diagnosed.