Prevalence, timing of diagnosis and mortality of newborns with congenital heart defects: a population-based study

Heart. 2012 Nov;98(22):1667-73. doi: 10.1136/heartjnl-2012-302543. Epub 2012 Aug 11.


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.

Publication types

  • Comparative Study

MeSH terms

  • Cross-Sectional Studies
  • Diagnosis, Differential
  • Early Diagnosis*
  • Female
  • Follow-Up Studies
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / epidemiology*
  • Humans
  • Infant Mortality / trends
  • Infant, Newborn
  • Male
  • Paris / epidemiology
  • Population Surveillance / methods*
  • Prevalence
  • Prospective Studies
  • Time Factors