Background: There is limited population-based information on the extent of underreporting of congenital heart defects (CHD) as a cause of death among infants with Down syndrome (DS) and on the variation in case fatality by presence of CHD and age at death.
Methods: Using data from the Metropolitan Atlanta Congenital Defects Program (MACDP), we identified infants with DS born 1979-2003. We used data from Georgia death certificates and the National Death Index to determine vital status and identify causes of death. Using MACDP records as a reference, we calculated the sensitivity and positive predictive value of reports of CHD as any cause of death or contributing condition in death certificates. We calculated race-specific case fatality rate by infant's age at death and presence of CHD.
Results: CHD was the most frequently reported cause of death from death certificates; however, a review of causes of death and birth defects data indicated a potentially greater impact of CHD among DS infant deaths than could be determined from the reported cause of death. The case fatality rate among infants with DS was significantly higher among blacks than whites, with the greatest racial disparity observed among infants without CHD who died in the post-neonatal period.
Conclusions: Efforts are needed to improve reporting of causes of death related to CHD among infants with DS that would allow for a clearer assessment of determinants of case fatality among DS infants and identification of possible ways to reduce the racial disparities.