title: 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.
authors.affiliation: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention (CDC), 1600 Clifton Rd, Mailstop E86, Atlanta, GA 30333. Electronic address: rsolney@aap.net.
authors.forename: Richard S
authors.initials: RS
authors.lastname: Olney
authors.affiliation: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention (CDC), 1600 Clifton Rd, Mailstop E86, Atlanta, GA 30333.
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Ailes
authors.affiliation: Department of Epidemiology, Colorado School of Public Health at University of Colorado Denver at Anschutz Medical Campus, Aurora, CO.
authors.forename: Marci K
authors.initials: MK
authors.lastname: Sontag
mesh_terms: D003625:Data Collection; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D011159:Population Surveillance; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015397:Program Evaluation; D011634:Public Health; D014481:United States / Q000453:epidemiology
keywords: Congenital; Heart defects; Neonatal screening; Population surveillance; Prenatal diagnosis; Public health