The associtation between aberrant right subclavian artery and trisomy 21 in a tertiary center in Turkey

We hoped to reveal the frequency of Aberrant Right Subclavian Artery (ARSA) and to find the relationship of isolated/non-isolated ARSA with chromosomal defects and other fetal congenital heart diseases (FCHD) in a heterogeneous population.

This was a retrospective cohort study conducted between December 2015 to September 2018. Women admitted for routine ultrasound examination or referred to our hospital for a suspected fetal anomaly were underwent detailed fetal anomaly ultrasonography scan and tested for the presence of ARSA.

ARSA was detected in 27 patients and an isolated finding in 13 (48%) cases. Among 13 cases with isolated ARSA, trisomy 21 was diagnosed in 1 case. In the non-isolated group (n: 14, 52%), five cases presented with trisomy 21. There was no significant difference of trisomy 21 frequency between isolated and non-isolated groups (7.6% vs 35.7%, p = 0.08). In 3 patients, FCHD was diagnosed and 2 of them had trisomy 21.

Our study shows that ARSA can be the only marker in trisomy 21. The examination of the subclavian artery must be a part of the fetal anomaly ultrasonography. Detecting an ARSA should increase the attentiveness of the sonographer to investigate for the other markers of trisomy 21. In the existence of other findings, invasive diagnostic procedures should be offered to the patients, whereas in cases that arsa is the only finding, other risk factors should be investigated to offer karyotyping or cell-free DNA analysis.