PDF(Pubmed)
Abstract：
In the United States and around the world, newborns are screened on a population basis for conditions benefiting from pre-symptomatic diagnosis and treatment. The number of screened conditions continues to expand as novel technologies for screening, diagnosing, treating, and managing disease are discovered. While screening all newborns facilitates early diagnosis and treatment, most screened conditions are treatable but not curable. Patients identified by newborn screening often require lifelong medical management and community support to achieve the best possible outcome. To advance the long-term follow-up of infants identified through newborn screening (NBS), the Long-Term Follow-up Cares and Check Initiative (LTFU-Cares and Check) designed, implemented, and evaluated a system of longitudinal data collection and annual reporting engaging parents, clinical providers, and state NBS programs. The LTFU-Cares and Check focused on newborns identified with spinal muscular atrophy (SMA) through NBS and the longitudinal health information prioritized by parents and families. Pediatric neurologists who care for newborns with SMA entered annual data, and data tracking and visualization tools were delivered to state NBS programs with a participating clinical center. In this publication, we report on the development, use of, and preliminary results from the LTFU-Cares and Check Initiative, which was designed as a comprehensive model of LTFU. We also propose next steps for achieving the goal of a national system of LTFU for individuals with identified conditions by meaningfully engaging public health agencies, clinicians, parents, families, and communities.
摘要：
在美国和世界各地，新生儿在人群基础上进行筛查，以了解受益于症状前诊断和治疗的情况。筛选条件的数量不断扩大，作为筛选的新技术，诊断,治疗,和管理疾病被发现。虽然筛查所有新生儿有助于早期诊断和治疗，大多数筛选条件是可治疗但不可治愈的。通过新生儿筛查确定的患者通常需要终身医疗管理和社区支持才能获得最佳结果。为了促进通过新生儿筛查（NBS）确定的婴儿的长期随访，设计了长期后续护理和检查计划(LTFU-护理和检查)，已实施，并评估了纵向数据收集和年度报告参与父母的系统，临床提供者，和国家国家统计局计划。LTFU-CaresandCheck重点关注通过NBS确定患有脊髓性肌萎缩症（SMA）的新生儿以及父母和家庭优先考虑的纵向健康信息。用SMA照顾新生儿的儿科神经科医生输入了年度数据，和数据跟踪和可视化工具被交付到有参与的临床中心的州NBS计划。在本出版物中,我们报告发展情况，使用,以及LTFU-关怀和检查倡议的初步结果，它被设计为LTFU的综合模型。我们还提出了下一步措施，通过有意义地与公共卫生机构接触，为具有确定条件的个人实现国家LTFU系统的目标，临床医生,父母,家庭,和社区。
