[Aberrant right subclavian artery (ARSA)--a new sonographic marker for chromosomal aberrations in the second...

Presentation of our own, preliminary experiences in the assessment of the right subclavian artery's (RSA) position during the second trimester scan.

Since January 2012 our center has started to conduct the assessment of the position of the right subclavian artery in the second trimester scan. Patients who were diagnosed with an aberrant right subclavian artery (ARSA) were referred to invasive method of prenatal diagnosis. Abnormal karyotype and microdeletion 22q11 were analyzed. Detailed echocardiography was conducted in each case.

Between January 2012 and September 2013 we diagnosed 19 cases of ARSA. There were three cases of congenital heart defect (15.8%; 3/19) (ventricular septal defect--VSD, n=2, atrioventricular septal defect--AVSD, n=1). Two out of 17 cases showed an abnormal karyotype (11.8%; 2/17)--46,XY del(5) (q15q31) and 47,XX+18. No 22q11.2 deletions were observed. Two patients did not consent to invasive methods of prenatal diagnosis.

The position of the right subclavian artery (RSA) should be routinely assessed during the second trimester of ultrasound screening. The presence of ARSA increases the risk for abnormal karyotype in the fetus and therefore, all patients who are diagnosed with ARSA should be referred to the reference center.