Duke Clinical Research Institute and Department of Pediatrics, Duke University, Durham, NC 27705, USA.
Pediatrics. 2011 Nov;128(5):e1259-67. doi: 10.1542/peds.2011-1317. Epub 2011 Oct 10.
Although newborn screening for critical congenital heart disease (CCHD) was recommended by the US Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children to promote early detection, it was deemed by the Secretary of the HHS as not ready for adoption pending an implementation plan from HHS agencies.
To develop strategies for the implementation of safe, effective, and efficient screening.
A work group was convened with members selected by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, the American Academy of Pediatrics, the American College of Cardiology Foundation, and the American Heart Association.
On the basis of published and unpublished data, the work group made recommendations for a standardized approach to screening and diagnostic follow-up. Key issues for future research and evaluation were identified.
The work-group members found sufficient evidence to begin screening for low blood oxygen saturation through the use of pulse-oximetry monitoring to detect CCHD in well-infant and intermediate care nurseries. Research is needed regarding screening in special populations (eg, at high altitude) and to evaluate service infrastructure and delivery strategies (eg, telemedicine) for nurseries without on-site echocardiography. Public health agencies will have an important role in quality assurance and surveillance. Central to the effectiveness of screening will be the development of a national technical assistance center to coordinate implementation and evaluation of newborn screening for CCHD.
尽管美国卫生与公众服务部部长遗传性新生儿和儿童疾病咨询委员会建议开展关键型先天性心脏病（CCHD）新生儿筛查，以促进早期发现，但由于缺乏卫生与公众服务部各机构的实施计划，HHS 部长认为其暂不具备采用条件。
制定安全、有效和高效的筛查实施策略。
召集了一个工作组，成员由遗传性新生儿和儿童疾病咨询委员会、美国儿科学会、美国心脏病学会基金会和美国心脏协会的代表选出。
根据已发表和未发表的数据，工作组就标准化筛查和诊断随访方法提出了建议。确定了未来研究和评估的关键问题。
工作组的成员发现有足够的证据通过使用脉搏血氧仪监测来筛查低血氧饱和度，以在婴儿和中级护理病房中发现 CCHD。需要在特殊人群（例如高海拔地区）进行筛查研究，并评估无现场超声心动图的新生儿病房的服务基础设施和交付策略（例如远程医疗）。公共卫生机构将在质量保证和监测方面发挥重要作用。筛查的有效性的关键是建立一个国家技术援助中心，以协调 CCHD 新生儿筛查的实施和评估。
