Grosse Scott D, Riehle-Colarusso Tiffany, Gaffney Marcus, Mason Craig A, Shapira Stuart K, Sontag Marci K, Braun Kim Van Naarden, Iskander John
MMWR Morb Mortal Wkly Rep. 2017 Aug 25;66(33):888-890. doi: 10.15585/mmwr.mm6633a4.
Newborn screening is a public health program that benefits 4 million U.S. infants every year by enabling early detection of serious conditions, thus affording the opportunity for timely intervention to optimize outcomes (1). States and other U.S. jurisdictions decide whether and how to regulate newborn screening practices. Most newborn screening is done through laboratory analyses of dried bloodspot specimens collected from newborns. Point-of-care newborn screening is typically performed before discharge from the birthing facility. The Recommended Uniform Screening Panel includes two point-of-care conditions for newborn screening: hearing loss and critical congenital heart disease (CCHD). The objectives of point-of-care screening for these two conditions are early identification and intervention to improve neurodevelopment, most notably language and related skills among infants with permanent hearing loss, and to prevent death or severe disability resulting from delayed diagnosis of CCHD. Universal screening for hearing loss using otoacoustic emissions or automated auditory brainstem response was endorsed by the Joint Committee on Infant Hearing in 2000 and 2007* and was incorporated in the first Recommended Uniform Screening Panel in 2005. Screening for CCHD using pulse oximetry was recommended by the Advisory Committee on Heritable Disorders in Newborns and Children in 2010 based on an evidence review and was added to the Recommended Uniform Screening Panel in 2011..
新生儿筛查是一项公共卫生项目,每年通过早期发现严重疾病使400万美国婴儿受益,从而为及时干预以优化治疗结果提供机会(1)。美国各州和其他司法管辖区决定是否以及如何规范新生儿筛查做法。大多数新生儿筛查是通过对从新生儿采集的干血斑标本进行实验室分析来完成的。即时护理新生儿筛查通常在分娩机构出院前进行。推荐统一筛查项目包括两项即时护理新生儿筛查疾病:听力损失和危重型先天性心脏病(CCHD)。对这两种疾病进行即时护理筛查的目标是早期识别和干预,以改善神经发育,对于永久性听力损失的婴儿,最显著的是改善语言和相关技能,并预防因CCHD诊断延迟导致的死亡或严重残疾。2000年和2007年,婴儿听力联合委员会认可了使用耳声发射或自动听性脑干反应进行听力损失普遍筛查*,并于2005年纳入首个推荐统一筛查项目。2010年,新生儿和儿童遗传性疾病咨询委员会基于证据审查建议使用脉搏血氧饱和度仪筛查CCHD,并于2011年将其添加到推荐统一筛查项目中。