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Prevalence, timing of diagnosis and mortality of newborns with congenital heart defects: a population-based study
  1. Babak Khoshnood1,
  2. Nathalie Lelong1,
  3. Lucile Houyel2,
  4. Anne-Claire Thieulin1,
  5. Jean-Marie Jouannic3,
  6. Suzel Magnier4,
  7. Anne-Lise Delezoide5,
  8. Jean-François Magny6,
  9. Caroline Rambaud7,
  10. Damien Bonnet8,
  11. François Goffinet1,9,
  12. on behalf of the EPICARD Study Group
  1. 1Inserm, UMR S953, Recherche épidémiologique sur la santé périnatale et la santé des femmes et des enfants, UPMC, Université Paris-6, Maternité de Port-Royal, Paris, France
  2. 2Service de chirurgie des cardiopathies congénitales, Hôpital Marie Lannelongue, Le Plessis Robinson, France
  3. 3Hôpital Trousseau, AP-HP, Centre pluridisciplinaire de diagnostic prénatal, UPMC, Paris, France
  4. 4Hôpital Robert Debré, AP-HP, Service de cardiologie, Paris, France
  5. 5Hôpital Robert Debré, AP-HP, Service de biologie du Développement, Université Paris-Diderot, Paris, France
  6. 6Institut de Puériculture et de périnatologie, Service de néonatologie, Paris, France
  7. 7Hôpital Raymond Poincarré, AP-HP, Service d'anatomie et cytologie pathologiques – Médecine légale, UVSQ, Garches, Paris, France
  8. 8Centre de référence M3C-Necker, Université Paris Descartes, Paris, France
  9. 9Maternité de Port-Royal, Groupe Hospitalier Cochin-Broca-Hôtel Dieu, Université Paris Descartes, Assistance Publique-Hôpitaux de Paris, Paris, France
  1. Correspondence to Dr Babak Khoshnood, INSERM U953, Maternité de Port-Royal, 6ème étage, 53 av. de l'Observatoire, 75014, Paris, France; babak.khoshnood{at}


Objective To assess the prevalence, timing of diagnosis and infant mortality of congenital heart defects (CHD) with population-based data and using a classification that allows regrouping of the International Paediatric and Congenital Cardiac Code into a manageable number of categories based on anatomic and clinical criteria (ACC-CHD).

Design Population-based cohort study.

Setting Greater Paris.

Patients All cases (live births, terminations of pregnancy for foetal anomaly (TOPFA), foetal deaths) diagnosed prenatally, or up to 1 year of age in the birth cohorts, May 2005–April 2008, for women in Greater Paris (n=317 538 births). Diagnoses were confirmed in specialised centres and subsequently coded and classified into the categories of ACC-CHD by paediatric cardiologists in the study group.

Results The total number of CHD was 2867, including 2348 live births (82%), 466 TOPFA (16.2%) and 53 foetal deaths (1.8%). The total prevalence of CHD was 90 per 10 000. After exclusion of ventricular septal defects (VSD), 40% of ‘isolated’ CHD was diagnosed prenatally with about one half of the remaining diagnosed before 7 days of age. Nevertheless, one in five cases of these major CHD was diagnosed after the fourth week. Infant mortality of ‘isolated’ CHD-VSD excluded was 8.5% with 40% of deaths occurring after the fourth week of life. These outcomes varied substantially across categories of ACC-CHD.

Conclusions Timing of diagnosis, TOPFA, risk and timing of infant mortality were highly variable across the categories of CHD in ACC-CHD, suggesting that it may be a useful measure of severity, and hence, predictor of outcomes of CHD.

  • Congenital heart defects
  • population-based
  • cohort
  • prevalence
  • prenatal diagnosis
  • infant mortality
  • congenital heart disease
  • paediatric cardiology
  • quality of care and outcomes
  • epidemiology
  • imaging and diagnostics
  • echocardiography
  • fetal
  • williams syndrome
  • fetal cardiololgy
  • paediatrics

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  • T EPICARD Study Group are listed in the appendix 1.

  • Funding This work was supported by two grants from the French Ministry of Health (PHRC 2004 and 2008). Additional funding was provided by the AREMCAR (Association pour la Recherche et l'Etude des Maladies Cardiovasculaires) Association.

  • Competing interests None.

  • Ethics approval The EPICARD study was approved by the French National Committee of Information and Freedom (Commission nationale de l'informatique et des libertés).

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement Additional data may be available upon request subject to approval by the Steering Committee of the EPICARD study group.