title: Right-sided aortic arch in the age of microarray.
abstract: OBJECTIVE
  For fetuses with a diagnosis of right aortic arch and normal cardiac anatomy, we aimed to establish the frequency of chromosomal anomaly diagnosed with single nucleotide polymorphism microarray analysis, particularly focusing on microduplications or microdeletions which would have gone undetected by conventional karyotyping and six-probe fish (13,18,21, X,Y, TUPLE).
  
  
  METHODS
  Retrospective study of fetal ultrasounds between 2011 and 2016 in an Australian tertiary referral centre. Outcomes of interest were survival and postnatal surgery for vascular ring.
  
  
  RESULTS
  Thirty patients were identified; 24 were apparently isolated. Chromosomal anomalies were identified in eight fetuses (32%) of 25 who had chromosomal testing. The rate in isolated cases was 11% and 56% in non-isolated cases. The 22q11.2 deletion was identified in three fetuses (12%). Microarray identified copy number variants of potential clinical significance in four additional fetuses (16%). Long continuous stretches of homozygosity were identified in one fetus with cerebellar hypoplasia potentially identifying the loci for recessive mutations. Surgery for vascular ring was performed on seven infants (25%) CONCLUSION: Microarray detected clinically significant chromosomal anomalies in fetuses with right aortic arch that would not be detected with conventional karyotyping. Prenatal counselling should include the chance of postnatal surgery and the importance of long-term follow-up. © 2017 John Wiley & Sons, Ltd.
authors.affiliation: Royal Women's Hospital, Parkville, Victoria, Australia.|University of Melbourne, Department of Obstetrics & Gynaecology, Royal Womens Hospital, Parkville, VIC, 3052, Australia.
authors.forename: Edward F
authors.identifier: http://orcid.org/0000-0002-4338-4345
authors.initials: EF
authors.lastname: O'Mahony
authors.affiliation: Royal Women's Hospital, Parkville, Victoria, Australia.|Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: Darren P
authors.initials: DP
authors.lastname: Hutchinson
authors.affiliation: Royal Women's Hospital, Parkville, Victoria, Australia.|Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
authors.forename: George
authors.initials: G
authors.lastname: McGillivray
authors.affiliation: Royal Women's Hospital, Parkville, Victoria, Australia.
authors.forename: Debbie L
authors.initials: DL
authors.lastname: Nisbet
authors.affiliation: Royal Women's Hospital, Parkville, Victoria, Australia.|University of Melbourne, Department of Obstetrics & Gynaecology, Royal Womens Hospital, Parkville, VIC, 3052, Australia.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Palma-Dias
mesh_terms: D001013:Aorta, Thoracic / Q000002:abnormalities*; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping / Q000379:methods; D008297:Male; D046228:Microarray Analysis; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal