Detection rate of trisomy 21 in fetuses with isolated and non-isolated aberrant right subclavian artery

Fetal Diagn Ther. 2013;34(3):140-5. doi: 10.1159/000354650. Epub 2013 Sep 14.

Abstract

Objective: The purpose of this study was to determine the frequency of chromosomal anomalies among the fetuses with isolated and non-isolated aberrant right subclavian artery (ARSA), and to evaluate the sonographic findings associated with ARSA.

Methods: This is a retrospective study conducted during the period between January 2008 and December 2012 at the maternal fetal medicine units of three different referral centers.

Results: Among the 148 cases of ARSA, 98 were isolated and 50 were associated with cardiac anomalies, extracardiac malformations or soft markers. Trisomy 21 was the only chromosomal anomaly with a prevalence of 6.8% (10/148). The corresponding rate was 6.1% (6/98) and 8% (4/50) for isolated and non-isolated ARSA, respectively. Cardiac anomalies, extracardiac findings and soft markers were detected in 5.4% (8), 10.8% (16) and 24.3% (36) of cases, respectively. Among the 10 fetuses with trisomy 21, 6 were isolated, 4 were associated with soft markers, 2 were associated with fetal growth restriction and 1 was associated with hydrops fetalis. Cardiac anomalies were not observed in any of these fetuses.

Conclusion: The prenatal diagnosis of ARSA should prompt meticulous anatomic survey, and karyotype analysis might be offered even in the absence of associated findings.

MeSH terms

  • Adult
  • Aneurysm / complications
  • Aneurysm / diagnostic imaging
  • Aneurysm / genetics*
  • Cardiovascular Abnormalities / complications
  • Cardiovascular Abnormalities / diagnostic imaging
  • Cardiovascular Abnormalities / genetics*
  • Deglutition Disorders / complications
  • Deglutition Disorders / diagnostic imaging
  • Deglutition Disorders / genetics*
  • Down Syndrome / complications
  • Down Syndrome / diagnosis*
  • Down Syndrome / diagnostic imaging
  • Female
  • Humans
  • Karyotype
  • Pregnancy
  • Retrospective Studies
  • Subclavian Artery / abnormalities*
  • Subclavian Artery / diagnostic imaging
  • Ultrasonography, Prenatal

Supplementary concepts

  • Aberrant subclavian artery