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Multiplex analysis using a totally automated system for Newborn Screening of Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Cystic Fibrosis in the Northeast of Brazil.

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Abstract

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.
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