title: Chromosomal microarray analysis in fetuses with aberrant right subclavian artery.
abstract: OBJECTIVE
  To evaluate the association between aberrant right subclavian artery (ARSA), with or without additional risk factors for aneuploidy or ultrasound abnormality, and results of chromosomal microarray analysis (CMA).
  
  
  METHODS
  This was a multicenter study of fetuses diagnosed with ARSA that underwent genetic analysis by CMA, all samples being analyzed in the same laboratory. Clinical investigation included nuchal translucency measurement, first- and second-trimester maternal serum screening, early and late second-trimester fetal anatomy scans and fetal echocardiography. Comparative genomic hybridization microarray analysis or single-nucleotide polymorphism array technology was used for CMA of DNA samples obtained from amniotic fluid.
  
  
  RESULTS
  CMA results were available for 63 fetuses with ARSA. In 36 fetuses, ARSA was an isolated finding, and no pathogenic variant was found. Additional ultrasound findings and/or risk factors for aneuploidy were present in 27 fetuses, five of which had pathogenic CMA results. Of these five, trisomy 21 was detected in a fetus with echogenic intracardiac focus (EIF), 22q11 deletion was detected in a fetus with EIF and an increased risk of trisomy 21 of 1:230 from maternal serum screening, 22q11 duplication was detected in a fetus with hypoplastic right kidney and choroid plexus cyst and 22q11 deletion was detected in a fetus with right aortic arch and clubfoot. The fifth fetus had increased nuchal translucency thickness (4 mm) and a ventricular septal defect, and CMA identified both 22q11 deletion and 1q21 duplication.
  
  
  CONCLUSIONS
  In fetuses with isolated ARSA, an invasive procedure for CMA is not indicated. However, CMA is recommended when additional ultrasound abnormalities or risk factors for aneuploidy are observed. The chromosomal findings in four of the five cases with an abnormal CMA result in our study would not have been detected by standard fetal chromosomal testing. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.
authors.affiliation: The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.|Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: I
authors.initials: I
authors.lastname: Maya
authors.affiliation: The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.
authors.forename: S
authors.initials: S
authors.lastname: Kahana
authors.affiliation: The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.
authors.forename: J
authors.initials: J
authors.lastname: Yeshaya
authors.affiliation: The Genetics Institute, Meir Medical Center, Kfar Saba, Israel.
authors.forename: T
authors.initials: T
authors.lastname: Tenne
authors.affiliation: The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.
authors.forename: S
authors.initials: S
authors.lastname: Yacobson
authors.affiliation: The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.
authors.forename: I
authors.initials: I
authors.lastname: Agmon-Fishman
authors.affiliation: Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
authors.forename: L
authors.initials: L
authors.lastname: Cohen-Vig
authors.affiliation: Department of Cardiology, Meir Medical Center, Kfar Saba, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Levi
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.|The Genetics Institute, Meir Medical Center, Kfar Saba, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Reinstein
authors.affiliation: The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.|Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.|Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.|Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel.
authors.forename: L
authors.initials: L
authors.lastname: Basel-Vanagaite
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.|The Genetics Institute, Meir Medical Center, Kfar Saba, Israel.|Department of Obstetrics and Gynecology, Meir Medical Center, Kfar Saba, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Sharony
mesh_terms: D000328:Adult; D000782:Aneuploidy; D000783:Aneurysm / Q000175:diagnosis* / Q000235:genetics; D018376:Cardiovascular Abnormalities / Q000175:diagnosis* / Q000235:genetics; D002869:Chromosome Aberrations / Q000706:statistics & numerical data*; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D006801:Humans; D048208:Nuchal Translucency Measurement / Q000379:methods*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods; D013348:Subclavian Artery / Q000002:abnormalities*
keywords: ARSA; CMA; del 22q11; trisomy 21