Newborn Screening for Sickle Cell Disease Using Point-of-Care Testing in Low-Income Setting
Newborn Screening for Sickle Cell Disease Using Point-of-Care Testing in Low-Income Setting
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DOI：
10.1542/peds.2018-4105
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发表时间：
2019-10-01
期刊：
影响因子：
8
通讯作者：
Saint Fleur, Rony
中科院分区：
文献类型：
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作者：
Alvarez, Ofelia A.;Hustace, Tally;Saint Fleur, Rony
背景：新生儿筛查为患有镰状细胞病 (SCD) 的儿童提供早期诊断，降低疾病相关死亡率。我们假设快速护理点 (POC) 镰刀扫描在海地是可靠的，并且有助于新生儿筛查。方法：从婴儿足跟棒中采集干血样本，并在海地角一家公立医院用等电聚焦 (IEF) 进行分析，为期一年。佛罗里达州新生儿筛查实验室还通过高效液相色谱法对总共 360 张 Guthrie 卡进行了分析，以确保质量。此外，三分之二的婴儿还接受了 POC 筛查，以评估与 IEF 的差异。评估了血红蛋白病的发生率以及 POC 扫描的特异性和敏感性。结果：总体而言，1.48% 的儿童筛查出 SCD 呈阳性。相对于高效液相色谱金标准，POC Sickle SCAN 的特异性和灵敏度分别为 0.97（置信区间 0.95-0.99）和 0.90（置信区间 0.55-1.00）。 POC前确认检测率为75%，添加POC双重筛查后确认检测率提高至87%。验证性测试显示，0.83% 的接受筛查儿童患有 SCD。与仅通过 IEF 筛查出 SCD 呈阳性的儿童相比，通过 POC 筛查出 SCD 呈阳性的儿童更早开始使用青霉素，首次儿科随访时间中位数提前了 38 天，并且按时接种了抗肺炎球菌疫苗。结论：观察性研究显示海地新生儿 SCD 的发病率较高。 Sickle SCAN 在新生儿筛查期间检测 SCD 具有出色的特异性和敏感性，并缩短了 SCD 阳性儿童的医疗保健获取时间。POC Sickle SCAN 增强了海地的新生儿筛查，使其成为对低收入国家有吸引力的策略。
BACKGROUND: Newborn screening provides early diagnosis for children with sickle cell disease (SCD), reducing disease-related mortality. We hypothesized that rapid point-of-care (POC) Sickle SCAN would be reliable in Haiti and would assist newborn screening. METHODS: Dried blood specimens were obtained from infant heel sticks and analyzed by isoelectric focusing (IEF) at a public hospital in Cap-Haitien during a 1-year period. A total of 360 Guthrie cards were also analyzed for quality assurance by high-performance liquid chromatography at the Florida Newborn Screening Laboratory. In addition, two-thirds of the infants were also screened by the POC to assess differences with the IEF. The hemoglobinopathy incidence and the specificity and sensitivity of the POC scan were assessed. RESULTS: Overall, 1.48% of the children screened positive for SCD. The specificity and the sensitivity of POC Sickle SCAN were 0.97 (confidence interval 0.95-0.99) and 0.90 (confidence interval 0.55-1.00), respectively, relative to high-performance liquid chromatography gold standard. The confirmatory testing rate was 75% before POC and improved to 87% after POC was added for dual screening. Confirmatory testing revealed that 0.83% of children screened had SCD. Children who screened positive for SCD by POC started penicillin earlier, had their first pediatric follow-up a median of 38 days earlier, and received antipneumococcal vaccination on time when compared with those who screened positive for SCD by IEF alone. CONCLUSIONS: The observational study revealed a high incidence of SCD among Haitian newborns. Sickle SCAN had excellent specificity and sensitivity to detect SCD during newborn screening and shortened health care access for children positive for SCD.The POC Sickle SCAN enhanced newborn screening in Haiti, making this an attractive strategy for low-income countries.