Aberrant right subclavian artery as soft marker in the diagnosis of trisomy 21 during the first trimester of pregnancy

PURPOSE: Aberrant right subclavian artery is an anatomical variation with a prevalence of around 0.5–1.5% of the general population, being more frequently found among people with chromosomopathies, especially, trisomy 21. Despite being an anatomical finding, and thus, constant through the whole pregnancy, its value in the diagnosis of aneuploidies during the first trimester of pregnancy has been little studied. The aim of this study is to evaluate the reliability of the first-trimester ultrasound in the diagnosis of ARSA and its utility in the early diagnosis of aneuploidies. METHODS: This was a descriptive, observational, cross-sectional study that included all fetuses with sonographic diagnosis of ARSA between 2011 and 2018. RESULTS: There were 257 cases of ARSA diagnosed. The first-trimester ultrasound showed the following results in the detection of ARSA: sensitivity of 68% (CI 95% 60.8%–74.5%), specificity of 99.9% (CI 95% 99.9%–100%), positive predictive value of 93.7% (CI 95% 88.1%–96.8%), and negative predictive value of 99.6% (CI 95% 99.5%–99.7%). Due to the presence of ARSA, two cases of trisomy 21, that would have been missed in the first trimester, were diagnosed, using ARSA as a soft marker and modifying the risk obtained by the combined screening as part of the genetic sonogram of the first trimester. CONCLUSIONS: ARSA visualization during the first-trimester ultrasound is trustworthy and it can improve the detection of trisomy 21 in some cases of aneuploidy missed during the combined screening of the first trimester.