Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening

Abstract

In 2011, statewide newborn screening programs for critical congenital heart defects began in the United States, and subsequently screening has been implemented widely. In this review, we focus on data reports and collection efforts related to both prenatal diagnosis and newborn screening. Defect-specific, maternal, and geographic factors are associated with variations in prenatal detection, so newborn screening provides a population-wide safety net for early diagnosis. A new web-based repository is collecting information on newborn screening program policies, quality indicators related to screening programs, and specific case-level data on infants with these defects. Birth defects surveillance programs also collect data about critical congenital heart defects, particularly related to diagnostic timing, mortality, and services. Individuals from state programs, federal agencies, and national organizations will be interested in these data to further refine algorithms for screening in normal newborn nurseries, neonatal intensive care settings, and other special populations; and ultimately to evaluate the impact of screening on outcomes.

Keywords: Congenital; Heart defects; Neonatal screening; Population surveillance; Prenatal diagnosis; Public health.

Fig

Pooled birth prevalence among live births of primary critical congenital heart defects (CCHD) screening targets, by CCHD type, among population-based birth defects surveillance systems that use active case finding methodologies, United States, 2005–2009. The exact years and number of programs included (range: 11–16) vary by defect. Pooled prevalence was calculated by dividing the total number of cases across programs by total number of combined live births. (Adapted from Mai et al.)