Aberrant right subclavian artery: is a strong marker for Down syndrome and congenital heart disease?

Abstract

Purpose: The association between fetal aberrant right subclavian artery (ARSA) and Down syndrome has been known for a long time. The aim of our study was to determine the incidence of ARSA in our population and its association with Down syndrome and congenital heart diseases (CHD). Materials and Methods: Between 2015-2018 years, fetal echocardiography was performed in 3150 pregnant population at a tertiary referral center for prenatal diagnosis. The presence of ARSA was verified by visualization of the transverse 3-vessel trachea view by color Doppler sonography during fetal echocardiography. The frequency of ARSA and its correlation with Down syndrome were investigated in our study. Results: Among the 3150 patients, an ARSA was detected in 42 fetuses (1.3%) and isolated ARSA was detected in 36 fetuses (1.14%). Of nine fetuses with Down syndrome, ARSA was positive in two (22.2%). ARSA was positive in only one of the fetuses with CHD (4.1%). The positive likelihood ratios of isolated ARSA for Down syndrome and CHD were 0.73 and 3.81, respectively. Conclusion: In our case series, prenatal detection of ARSA does not appear to be a strong marker alone of Down syndrome and the isolated ARSA shows a weak association with CHD.

Keywords

• Aberrant right subclavian artery
• congenital heart disease
• Down syndrome

Aberran sağ subklavyen arter: down sendromu ve konjenital kalp hastalığı için güçlü bir belirteç midir?

Öz

Amaç: Fetal aberran sağ subklavyen arter (ARSA) ile Down sendromu arasındaki ilişki uzun zamandır bilinmektedir. Çalışmamızın amacı popülasyonumuzdaki ARSA insidansını ve Down sendromu ve konjenital kalp hastalıkları (KKH) ile ilişkisini belirlemektir. Gereç ve Yöntem: 2015-2018 yılları arasında üçüncü basamak merkezde prenatal tanı için 3150 gebeye fetal ekokardiyografi yapıldı. ARSA varlığı, fetal ekokardiyografi sırasında transvers 3 damar trakea planında renkli Doppler sonografide görüntülenmesi ile doğrulandı. Çalışmamızda ARSA'nın sıklığı ve Down sendromu ile korelasyonu araştırıldı. Bulgular: 3150 hasta arasında 42 fetüste (% 1.3) ARSA, 36 fetüste (% 1.14) izole ARSA saptandı. Down sendromlu dokuz fetüsten iki hastada (% 22.2) ARSA pozitifti. ARSA, KKH olan fetüslerden sadece birinde pozitifti (% 4.1). İzole ARSA'nın Down sendromu ve CHD için pozitif olasılık oranları sırasıyla 0.73 ve 3.81 idi. Sonuç: Olgu serimizde, prenatal ARSA'nın saptanması Down sendromu için tek başına güçlü bir marker gibi görünmemektedir ve izole ARSA, KKH ile zayıf bir ilişki göstermektedir.

Anahtar Kelimeler

• Aberran sağ subklavyen arter
• konjenital kalp hastalığı
• Down sendromu

References

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