Olney Richard S, Ailes Elizabeth C, Sontag Marci K
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention (CDC), 1600 Clifton Rd, Mailstop E86, Atlanta, GA 30333.
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention (CDC), 1600 Clifton Rd, Mailstop E86, Atlanta, GA 30333.
Semin Perinatol. 2015 Apr;39(3):230-7. doi: 10.1053/j.semperi.2015.03.007.
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.
2011年，美国开始在全州范围内开展严重先天性心脏病的新生儿筛查项目，随后该筛查得到广泛实施。在本综述中，我们重点关注与产前诊断和新生儿筛查相关的数据报告及收集工作。特定缺陷、母亲因素和地理因素与产前检测的差异相关，因此新生儿筛查为早期诊断提供了一个覆盖全人群的安全网。一个新的基于网络的数据库正在收集有关新生儿筛查项目政策、与筛查项目相关的质量指标以及患有这些缺陷婴儿的具体病例级数据。出生缺陷监测项目也收集有关严重先天性心脏病的数据，特别是与诊断时机、死亡率和服务相关的数据。来自州项目、联邦机构和国家组织的人员会对这些数据感兴趣，以便进一步完善正常新生儿病房、新生儿重症监护环境及其他特殊人群的筛查算法；并最终评估筛查对结局的影响。
