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首页> 外文期刊>Journal of Inborn Errors of Metabolism & Screening >BOOK OF ABSTRACTS - X Latin American Congress of Inborn Errors of Metabolism and Neonatal Screening
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BOOK OF ABSTRACTS - X Latin American Congress of Inborn Errors of Metabolism and Neonatal Screening

机译：摘要摘要-X拉丁美洲先天性代谢错误和新生儿筛查大会

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Introduction: The Northeast of Brazil represents 27.7% of population with 9 States and approximately 690.000 newborn screening samples per year. The State of Bahia began to offer newborn screening in 1992. APAE-SALVADOR is the reference institution in the State processing 12.000 samples per month. During the last years, the inclusion of new markers by the Brazilian Newborn Screening Program, quantification of 17OH and analysis of Biotinidase activity has generated a significant increase in the number of assays. The impact is considered important inside the lab, since changes or limitations in infrastructure, human resources, punching sample process, data analysis can affect a critical parameter inside the Newborn Screening Program, the time from processing the sample to the results. Development of advanced technologies according the Brazilian Newborn Screening Program is needed to minimize the impact in the implementation of new markers. Materials and Methods: Lab of APAE-SALVADOR used a totally automated system (Nimbus NeoMAP) with multiplex assay (NeoMAP 4plex). Approximately 20.000 samples collected from 417 cities in State of Bahia have been analyzed during last 2 months in the routine. In the same study we evaluated the application of an additional feature offered with the use of the multiplex system, the analysis of the results by percentile instead the fixed cut-offs. DBS from positive samples (diagnostic confirmed) were used as controls in the study. Results: The time from receiving the sample to delivery of the results has been reduced 3 times using the multiplex technology. The use of NeoMAP 4plex Kits associated with totally automated equipment, Nimbus NeoMAP, reduced 75% the sample punching process. The use of percentiles has reduced the number of false positive samples and the potential false negatives in the routine compared to fixed cut-off. The results are presented in tables for each marker. Conclusion: The development of new technology that is focused on the requests and needs of the state newborn screening programs are essential for evolution of prevention in addition of new screening diseases and more sustainable public health system.
机译：简介：巴西东北部代表9个州的人口，占总人口的27.7％，每年约有690.000个新生儿筛查样本。巴伊亚州从1992年开始提供新生儿筛查。APAE-SALVADOR是该州的参考机构，每月处理12.000个样本。在最近几年中，巴西新生儿筛查计划包括了新的标记，17OH的定量和生物素酶活性的分析大大增加了测定的数量。在实验室内部，这种影响被认为是重要的，因为基础设施，人力资源，打孔样品处理，数据分析的更改或限制会影响新生儿筛查程序内部的关键参数，即从处理样品到结果的时间。需要根据巴西新生儿筛查计划开发先进技术，以最大程度地减少实施新标记的影响。材料和方法：APAE-SALVADOR的实验室使用了具有多重分析（NeoMAP 4plex）的全自动系统（Nimbus NeoMAP）。在过去两个月中，常规分析了从巴伊亚州417个城市收集的大约20.000个样本。在同一项研究中，我们评估了使用多路复用系统提供的其他功能的应用，通过百分位数而不是固定的临界值对结果进行分析。研究中使用阳性样本（经确诊）的DBS作为对照。结果：使用多重技术，从接收样品到交付结果的时间减少了3倍。与全自动设备Nimbus NeoMAP相关的NeoMAP 4plex套件的使用减少了75％的样品打孔过程。与固定截止值相比，百分位的使用减少了例行程序中的假阳性样本和潜在的假阴性样本。结果显示在每个标记的表格中。结论：除新的筛查疾病和更可持续的公共卫生系统外，针对州新生儿筛查计划的要求和需求的新技术的开发对于预防的发展至关重要。

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