title: Impact of prenatal diagnosis on the outcome of patients with a transposition of great arteries: A 24-year population-based study.
abstract: BACKGROUND
  Transposition of great arteries (TGA) defined as the combination of concordant atrioventricular and discordant ventriculo-arterial connections is one of the most common congenital heart defects. Prenatal diagnosis of TGA remains difficult. To determine the impact of antenatal diagnosis we evaluated the sensitivity of antenatal detection and the neonatal mortality of TGA considering two study periods and two major types of TGA.
  
  
  METHODS
  A cross-sectional study was performed. Data were collected from a French population-based birth defect registry. From 1988 to 2012, 94 fetuses with TGA were registered. The study period was subdivided into the 1988 to 1999 period and the 2000 to 2012 period. Two types of TGA were considered: isolated TGA (n = 66) and associated TGA (n = 28). A stratified analysis was performed considering the study periods and the types of TGA.
  
  
  RESULTS
  Considering the study periods, the sensitivity of prenatal detection of TGA increased significantly (9.8% vs. 51.5%, p = 0.0001). The same trend was found for associated TGA (4.8% vs. 33.3%, p = 0.002) and isolated TGA (21.1% vs. 100%, p < 0.001). A late diagnosis of TGA (7 days after birth) was observed in 13.2% of cases. Neonatal mortality decreased significantly over time for isolated TGA (25.0% vs. 0 p = 0.01). Prenatal diagnosis of both types of TGA did not improve survival.
  
  
  CONCLUSIONS
  We demonstrated that prenatal diagnosis and neonatal mortality of TGA varied greatly according to the malformation type and the study period. This could be explained by an improvement in terms of medical management.
authors.affiliation: Service de Santé Publique, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.|EA 4681, PEPRADE, Clermont Université, Université d'Auvergne, Clermont-Ferrand, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Debost-Legrand
authors.affiliation: Service de Biostatistiques, Informatique Médicale et Technologies de la Communication, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.|ISIT, UMR CNRS 6284, Clermont-Ferrand, France.
authors.forename: Lemlih
authors.initials: L
authors.lastname: Ouchchane
authors.affiliation: Service de Génétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.|Centre d'Etude des Malformations Congénitale, CEMC-Auvergne, BP31, Chamalières, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Francannet
authors.affiliation: Service de Cytogénétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.
authors.forename: Carole
authors.initials: C
authors.lastname: Goumy
authors.affiliation: EA 4681, PEPRADE, Clermont Université, Université d'Auvergne, Clermont-Ferrand, France.|Service de Génétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.|Centre d'Etude des Malformations Congénitale, CEMC-Auvergne, BP31, Chamalières, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Perthus
authors.affiliation: Service de Foetopathologie, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Beaufrère
authors.affiliation: Pôle Gynéco-Obstétrique-Reproduction Humaine, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.|R2D2-EA7281, Université d'Auvergne, Clermont Université, Clermont-Ferrand, France.
authors.forename: Denis
authors.initials: D
authors.lastname: Gallot
authors.affiliation: EA 4681, PEPRADE, Clermont Université, Université d'Auvergne, Clermont-Ferrand, France.|Pôle Gynéco-Obstétrique-Reproduction Humaine, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.
authors.forename: Didier
authors.initials: D
authors.lastname: Lemery
authors.affiliation: ISIT, UMR CNRS 6284, Clermont-Ferrand, France.|Service de Cardiologie, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.
authors.forename: Jean-René
authors.initials: JR
authors.lastname: Lusson
authors.affiliation: EA 4681, PEPRADE, Clermont Université, Université d'Auvergne, Clermont-Ferrand, France.|Centre d'Etude des Malformations Congénitale, CEMC-Auvergne, BP31, Chamalières, France.|Pôle Gynéco-Obstétrique-Reproduction Humaine, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Laurichesse-Delmas
mesh_terms: D000328:Adult; D003430:Cross-Sectional Studies; D057210:Delayed Diagnosis; D005260:Female; D005333:Fetus; D005602:France / Q000453:epidemiology; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging* / Q000453:epidemiology* / Q000401:mortality / Q000473:pathology; D006801:Humans; D007223:Infant; D007226:Infant Mortality / Q000639:trends; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012042:Registries; D012680:Sensitivity and Specificity; D016019:Survival Analysis; D014188:Transposition of Great Vessels / Q000000981:diagnostic imaging* / Q000453:epidemiology* / Q000401:mortality / Q000473:pathology; D016216:Ultrasonography, Prenatal
keywords: neonatal mortality; prenatal diagnosis; transposition of great arteries