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Newborn Screening for Sickle Cell Disease in St. Vincent and the Grenadines: Results of a Pilot Newborn Screening Program

机译:圣文森特和格林纳丁斯镰刀菌病的新生儿筛查:新生儿筛查计划的结果

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摘要

Objective: To pilot a newborn screening program for sickle cell disease (SCD) in St. Vincent and the Grenadines using a novel partnership method to determine the feasibility of a universal newborn screening program in this country. Methods: A prospective study of mothers and their newborns was conducted between January 1, 2015, and November 1, 2015, at the country’s main hospital. Mothers of infants born at this hospital were offered screening for SCD for their infants. If accepted, the newborn’s heel-stick blood specimen was obtained and mailed to the South Carolina Department of Health and Environmental Control Newborn Screening Laboratory for testing. Samples were analyzed for variant hemoglobins using standard laboratory techniques and results were communicated to local physicians. Feasibility was determined by a benchmark of having >50% of SCD patients receive the diagnosis and initiate disease-specific care by 3 months of age. Descriptive statistics were completed using SAS 9.4. Results: There were 1147 newborn infants screened for SCD. Of these, 123 (10.7%) had results indicative of sickle trait and 3 patients (0.3%) were diagnosed with SCD: 1 with HbSS and 2 with HbSC. All 3 patients with SCD received treatment before 3 months of age. Conclusions: A newborn screening program is feasible in this population when partnered with an established newborn screening laboratory.
机译:目的:使用新型伙伴关系方法在圣文森特和格林纳丁斯试行镰状细胞疾病(SCD)新生儿筛查计划,以确定在该国实施通用新生儿筛查计划的可行性。方法:2015年1月1日至2015年11月1日,在该国的主要医院进行了一项关于母亲及其新生儿的前瞻性研究。在这家医院出生的婴儿的母亲接受了婴儿SCD筛查。如果被接受,则获得新生儿的足跟血样并将其邮寄至南卡罗来纳州卫生和环境控制部新生儿筛查实验室进行测试。使用标准实验室技术对样品中的变异血红蛋白进行分析,并将结果告知当地医生。可行性是由一个基准来确定的,即在3个月大之前使> 50%的SCD患者接受诊断并开始疾病特异性护理。使用SAS 9.4完成描述性统计。结果:共有1147例新生儿进行了SCD筛查。其中,123例(10.7%)的结果表明有镰刀状,3例(0.3%)被诊断为SCD:1例为HbSS,2例为HbSC。所有3例SCD患者均在3个月大之前接受了治疗。结论:与建立的新生儿筛查实验室合作,在该人群中进行新生儿筛查计划是可行的。

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