title: [Chromosomal anomalies: The experience of the Congenital Anomalies Registry of the Valencia Region].
abstract: OBJECTIVE
  To describe the temporal trend and distribution of chromosomal congenital abnormalities (CA) in the Valencia Region, in less than one year olds, during the period 2007-2011.
  
  
  METHODS
  Live births, still births and termination of pregnancy due to foetal anomaly between 2007 and 2011 with chromosomal CA (Q90-Q99.9 codes of the 10th International Classification of Diseases -British Paediatric Association) were selected from the CA population-based Registry of Valencia Region The prevalence per 10,000 births for the chromosomal CA and for the different types of chromosomal syndromes with 95% confidence intervals was calculated. The analysis was performed by calculating prevalences and data were compared using Pearson Chi-squared test.
  
  
  RESULTS
  A total of 895 cases were found, representing a prevalence of 33.5 per 10,000 births (95% CI: 31.0-35.9), highlighting five syndromes: Down's, Edward's, Patau, Turner and Klinefelter. The prevalence of chromosomal CA and Down's syndrome were stable over the period, except in 2010. Down's was the most frequent chromosomal CA (67% of the cases), and the most frequent termination of pregnancy type was for foetal anomaly (69%). Cardiac heart defects represented 70.3% of the associated congenital anomalies. Mothers of children with chromosomal CA were mainly Spanish (73.3%). The age group of mothers over 39 years had a higher prevalence (133.0 per 10,000 births). The province of Castellón had the highest prevalence, 39.1 per 10,000 births.
  
  
  CONCLUSIONS
  The prevalence has remained stable over the five years, excluding the significant decline in 2010, for chromosomal CA detected and two of the major syndromes. The chromosomal CA are an important public health problem as they represent 15% of all CA identified in the Valencia Region, and agrees with the European data.
authors.affiliation: Área de Investigación sobre Enfermedades Raras, Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana, Valencia, España.
authors.forename: S
authors.initials: S
authors.lastname: Gimeno-Martos
authors.affiliation: Área de Investigación sobre Enfermedades Raras, Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana, Valencia, España. Electronic address: cavero_cla@gva.es.
authors.forename: C
authors.initials: C
authors.lastname: Cavero-Carbonell
authors.affiliation: Dirección General de Salud Pública, Conselleria de Sanitat, Valencia, España.
authors.forename: A
authors.initials: A
authors.lastname: López-Maside
authors.affiliation: Dirección General de Salud Pública, Conselleria de Sanitat, Valencia, España.
authors.forename: S
authors.initials: S
authors.lastname: Bosch-Sánchez
authors.affiliation: Área de Investigación sobre Enfermedades Raras, Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana, Valencia, España; CIBER de Epidemiología y Salud Pública (CIBERESP), Madrid, España.
authors.forename: C
authors.initials: C
authors.lastname: Martos-Jiménez
authors.affiliation: Área de Investigación sobre Enfermedades Raras, Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana, Valencia, España; Dirección General de Salud Pública, Conselleria de Sanitat, Valencia, España; CIBER de Epidemiología y Salud Pública (CIBERESP), Madrid, España.
authors.forename: O
authors.initials: O
authors.lastname: Zurriaga
mesh_terms: D025063:Chromosome Disorders / Q000453:epidemiology*; D000013:Congenital Abnormalities / Q000453:epidemiology*; D004314:Down Syndrome / Q000453:epidemiology; D005260:Female; D006330:Heart Defects, Congenital / Q000453:epidemiology; D006801:Humans; D008423:Maternal Age; D011247:Pregnancy; D015995:Prevalence; D012042:Registries; D013030:Spain / Q000453:epidemiology
keywords: Anomalía congénita cromosómica; Chromosome congenital abnormalities; Comunitat Valenciana; Down's syndrome; Population register; Registro poblacional; Síndrome de Down; Valencia Region