Acta clinica Croatica, Vol. 59. No. 4., 2020.
Original scientific paper
https://doi.org/10.20471/acc.2020.59.04.03
Prenatal Identification of Aberrant Right Subclavian Artery in Isolation: the Need for Further Genetic Work-Up?
Reyhan Ayaz
orcid.org/0000-0002-2617-7918
; Division of Perinatology, Istanbul Medeniyet University, Faculty of Medicine, Istanbul, Turkey
Emine Göktas
; Division of Genetic Disease, Van Regional Training and Research Hospital, Van, Turkey
Gurcan Turkyilmaz
; Division of Obstetrics & Gynecology, Van Regional Trainingand Research Hospital, Van, Turkey
Mehmet Resit Asoglu
; Bahceci Infertility and IVF Center, Fulya, Istanbul, Turkey
Abstract
The objective of this study was to evaluate the association between aberrant right
subclavian artery (ARSA) and chromosomal abnormalities. The study included 5211 women having
attended our unit for fetal anatomic screening and fetal echocardiography from August 2016 until
February 2019. After diagnosing ARSA, prenatal invasive testing was discussed with the patients.
ARSA affected fetus was determined in 57 cases; of these, there were 38 cases of isolated ARSA and
19 cases of non-isolated ARSA but associated with soft markers and fetal anomalies. Nineteen patients
underwent amniocentesis; Down syndrome was determined in two women, both of them from
the non-isolated ARSA group, with fetal hydrops, atrioventricular septal defect and esophageal atresia.
Fifteen of 38 patients who declined prenatal diagnostic testing, accepted karyotype analysis after delivery
and none of these 15 cases had chromosomal abnormalities. Identification of ARSA should be
followed by detailed ultrasound examination to ensure that there are no accompanying soft markers
and/or structural defects. Isolated ARSA may not be an indication for karyotype analysis or 22q11.2
microdeletions. Non-ARSA implies a strong predictor of aneuploidy, and when additional findings
are detected, invasive testing should be offered to the parents. The association between isolated ARSA
and genetic disease should be evaluated in large powered prospective studies.
Keywords
Aberrant right subclavian artery; 22q11.2 microdeletion; Aneuploidy; Trisomy 21; Prenatal diagnosis
Hrčak ID:
253717
URI
Publication date:
1.12.2020.
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