Using State Birth Defects Registries to Evaluate Regional Critical Congenital Heart Disease Newborn Screening

Background Most states have now passed legislation mandating pulse oximetry for all newborns, or have promulgated regulations or guidelines to encourage use of routine pulse oximetry. State-based birth defects registries may be well positioned to track and evaluate critical congenital heart disease (CCHD) screening coverage and outcomes. This purpose of this study was to determine: (1) the proportion of cases detected by screening, (2) health services use by children with CCHDs during the first year of life, and (3) mortality outcomes. Methods Records of children born in 2012 to 2013 with any of seven CCHD lesions were identified in New England birth defects databases. Information was abstracted from each child's medical record. Descriptive statistics were used to report results. Results From nearly 160,000 live births, 208 CCHD diagnoses were noted in the records of 157 children. Screening was noted in 67% of records of confirmed cases of CCHDs. Data completeness varied by state; for example, information was available regarding prenatal diagnosis in 91% of records and age at first surgery in 85% among states with active surveillance compared with 35% and 75%, respectively, with passive surveillance. Documentation of screening results in medical records was inconsistent. The one year survival was 85% (77/91). Conclusion Birth defects surveillance systems can provide information on outcomes for infants with CCHDs. However, information varies by surveillance method and by hospital practices. Engaging hospitals in standardizing recording procedures and enhancing training and quality control could increase the value of birth defects registries records in assessing outcomes for children identified through CCHD screening. Birth Defects Research 109:1414–1422, 2017.© 2017 Wiley Periodicals, Inc.