title: Fetal and neonatal diagnosis of interrupted aortic arch: associations and outcomes.
abstract: OBJECTIVE
  Interrupted aortic arch (IAA) is a rare but serious anomaly. Prenatal diagnosis is challenging and published data are limited. The aim of the study was to review the data of fetuses and neonates diagnosed with IAA during a 16-year period at Children's Hospital Giessen.
  
  
  METHODS
  Retrospective ascertainment of 8 fetuses and 20 neonates with a confirmed diagnosis of IAA from 1994 to 2010 by reviewing the hospital database of the cardiovascular program of the prenatal and pediatric cardiology clinics at the University Hospital Giessen.
  
  
  RESULTS
  Eighteen cases with IAA type B and 10 cases with IAA type A were found. After 2005, prenatal diagnosis was achieved in 8 cases and postnatal imaging confirmed IAA in all 8 neonates. Twenty-nine percent of individuals had a chromosomal anomaly, with microdeletion 22q11.2 being the most common abnormality (n = 6, 21%). In 46% (13/28) other complex cardiac anomalies were present. Mortality after surgery was 18%. Long-term morbidity and mortality was due to neurological impairment in the presence of microdeletion 22q11.2 and the need of surgical or catheter re-intervention.
  
  
  CONCLUSIONS
  Despite the difficulties and challenges in diagnosis, the prenatal detection rate of IAA is increasing. Associated complex cardiac and chromosomal abnormalities influence the outcome of patients with IAA and are important issues of parental counseling.
authors.affiliation: Fetal Heart Centre, Department of Obstetrics and Gynecology, Justus Liebig University, Giessen, Germany. roland.axt-fliedner@gyn.med.uni-giessen.de
authors.forename: Roland
authors.initials: R
authors.lastname: Axt-Fliedner
authors.forename: Andrea
authors.initials: A
authors.lastname: Kawecki
authors.forename: Christian
authors.initials: C
authors.lastname: Enzensberger
authors.forename: Julia
authors.initials: J
authors.lastname: Wienhard
authors.forename: Jan
authors.initials: J
authors.lastname: Degenhardt
authors.forename: Dietmar
authors.initials: D
authors.lastname: Schranz
authors.forename: Melanie
authors.initials: M
authors.lastname: Vogel
mesh_terms: D001018:Aortic Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics; D002869:Chromosome Aberrations; D004452:Echocardiography / Q000379:methods; D005315:Fetal Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D011379:Prognosis; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal / Q000379:methods