title: Atrioventricular septal defects among infants in Europe: a population-based study of prevalence, associated anomalies, and survival.
abstract: OBJECTIVE
  To describe the epidemiology of chromosomal and non-chromosomal cases of atrioventricular septal defects in Europe.
  
  
  METHODS
  Data were obtained from EUROCAT, a European network of population-based registries collecting data on congenital anomalies. Data from 13 registries for the period 2000-2008 were included.
  
  
  RESULTS
  There was a total of 993 cases of atrioventricular septal defects, with a total prevalence of 5.3 per 10,000 births (95% confidence interval 4.1 to 6.5). Of the total cases, 250 were isolated cardiac lesions, 583 were chromosomal cases, 79 had multiple anomalies, 58 had heterotaxia sequence, and 23 had a monogenic syndrome. The total prevalence of chromosomal cases was 3.1 per 10,000 (95% confidence interval 1.9 to 4.3), with a large variation between registers. Of the 993 cases, 639 cases were live births, 45 were stillbirths, and 309 were terminations of pregnancy owing to foetal anomaly. Among the groups, additional associated cardiac anomalies were most frequent in heterotaxia cases (38%) and least frequent in chromosomal cases (8%). Coarctation of the aorta was the most common associated cardiac defect. The 1-week survival rate for live births was 94%.
  
  
  CONCLUSIONS
  Of all cases, three-quarters were associated with other anomalies, both chromosomal and non-chromosomal. For infants with atrioventricular septal defects and no chromosomal anomalies, cardiac defects were often more complex compared with infants with atrioventricular septal defects and a chromosomal anomaly. Clinical outcomes for atrioventricular septal defects varied between regions. The proportion of termination of pregnancy for foetal anomaly was higher for cases with multiple anomalies, chromosomal anomalies, and heterotaxia sequence.
authors.affiliation: Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
authors.forename: Nikolas
authors.initials: N
authors.lastname: Christensen
authors.forename: Helle
authors.initials: H
authors.lastname: Andersen
authors.forename: Ester
authors.initials: E
authors.lastname: Garne
authors.forename: Diana
authors.initials: D
authors.lastname: Wellesley
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Addor
authors.forename: Martin
authors.initials: M
authors.lastname: Haeusler
authors.forename: Babak
authors.initials: B
authors.lastname: Khoshnood
authors.forename: Carmel
authors.initials: C
authors.lastname: Mullaney
authors.forename: Judith
authors.initials: J
authors.lastname: Rankin
authors.forename: David
authors.initials: D
authors.lastname: Tucker
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology*; D000025:Abortion, Eugenic / Q000706:statistics & numerical data; D001017:Aortic Coarctation / Q000453:epidemiology; D025063:Chromosome Disorders / Q000453:epidemiology; D015897:Comorbidity; D005060:Europe / Q000453:epidemiology; D005260:Female; D030342:Genetic Diseases, Inborn / Q000453:epidemiology; D006343:Heart Septal Defects / Q000453:epidemiology*; D059446:Heterotaxy Syndrome / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D050498:Live Birth / Q000453:epidemiology; D008297:Male; D015995:Prevalence; D012042:Registries; D050497:Stillbirth / Q000453:epidemiology