Therrell Bradford L, Padilla Carmencita David, Loeber J Gerard, Kneisser Issam, Saadallah Amal, Borrajo Gustavo J C, Adams John
National Newborn Screening and Genetics Resource Center (NNSGRC), Austin, TX; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX.
College of Medicine, University of the Philippines Manila, Manila, Philippines; Newborn Screening Reference Center, National Institutes of Health (Philippines), Manila, Ermita, Philippines.
Semin Perinatol. 2015 Apr;39(3):171-87. doi: 10.1053/j.semperi.2015.03.002.
Newborn screening describes various tests that can occur during the first few hours or days of a newborn's life and have the potential for preventing severe health problems, including death. Newborn screening has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system capable of detecting over 50 different conditions. While a number of papers have described various newborn screening activities around the world, including a series of papers in 2007, a comprehensive review of ongoing activities since that time has not been published. In this report, we divide the world into 5 regions (North America, Europe, Middle East and North Africa, Latin America, and Asia Pacific), assessing the current NBS situation in each region and reviewing activities that have taken place in recent years. We have also provided an extensive reference listing and summary of NBS and health data in tabular form.
新生儿筛查是指在新生儿出生后的最初几个小时或几天内进行的各种检测,这些检测有可能预防包括死亡在内的严重健康问题。新生儿筛查已从简单的血液或尿液筛查测试发展成为一个更全面、更复杂的筛查系统,能够检测出50多种不同的病症。虽然已有多篇论文描述了世界各地的各种新生儿筛查活动,包括2007年发表的一系列论文,但自那时以来,尚未发表对当前正在进行的活动的全面综述。在本报告中,我们将世界划分为5个区域(北美、欧洲、中东和北非、拉丁美洲以及亚太地区),评估每个区域目前的新生儿筛查情况,并回顾近年来开展的活动。我们还以表格形式提供了新生儿筛查及健康数据的广泛参考文献列表和总结。