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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Conference Paper Full-text available November 2015
Introduction : High numbers of false positives and identification of false negatives suggests adjustment of cut-off values is needed. Many studies about Cystic Fibrosis (CF) and Congenital Adrenal Hyperplasia (CAH) have been published recommending the use of percentiles to correctly classify negative and positives samples, mainly for CF when quantification of immunoreactive trypsinogen (IRT) is
... [Show full abstract] used. The use of percentiles has demonstrated benefits for the screening of CAH instead fixed cut-off point. For both diseases, other factors such as weight, sample collection date, and transportation conditions must be controlled to determine the correct classification of the samples, even using percentiles. INTERCIENTIFICA has developed a totally automated system for newborn screening for CH, CAH and CF in multiplex format that offers additionally the classification of the samples using percentiles per routine. Material and Methods: Positive confirmed samples were obtained from different labs in Brazil, plus external quality control materials, including internal controls with 3 different concentrations for each analyte (T4, TSH, IRT and 17OHP). The Nimbus NeoMAP associated to NeoMAP 4plex was used, with the software calculating and identifying samples using percentiles. The appropriate cut-off for each analyte is shown in the table with the sample results for each marker, against the classification using the fixed cut-off. Results: All the samples were corrected classified using the percentiles. The table shows the differences obtained between the use of fixed cut-off and cut-off determined by the percentile. The percentiles can be adjusted by the supervisor anytime and can directly affect the number of classified samples (positive/negative). Conclusion: The use of percentiles is offered as alternative method to the usual fixed cut-off for each marker and demonstrated advantages with reduction of false positives and false negatives in newborn screening. The use of a totally automated system, with multiplex format and automatic classification of the samples for each analyte, using percentiles per routine, is considered the most advanced and revolutionary solution for newborn screening programs. View full-text Conference Paper Full-text available December 2013
Introduction: The variation in the incidence of diseases related to newborn screening is an imminent factor for differentiation in the process of implementation of existing programs and priorities. In Brazil, the Ministry of Health has been reinforcing the policy for implementation, in all states of Phase III (Cystic Fibrosis) and the inclusion of Phase IV (Congenital Adrenal Hyperplasia and
... [Show full abstract] Biotinidase Deficiency). INTERCIENTIFICA, in order to meet the needs of its market, developed a solution in a fully automated system with multiplex assay through NeoMAP 4 Plex kit (TSH/T4/17-OHP and IRT). Objective: To present the performance of NeoMAP 4 Plex product in a fully automated system for Newborn Neonatal Screening of congenital hypothyroidism, congenital adrenal hyperplasia, and cystic fibrosis in direct comparative with fluorimetric product which analyzes each parameter individually. Methods: The evaluation assays used samples of newborn screening laboratories with NeoMAP 4plex Kit, associating Nimbus reader equipment to Luminex 200/Magpix®. For direct comparative, kits and fully automated equipment using the fluorimetric method were used. Results: The results demonstrate the reproduction of sample results when compared to retrospective results with a high level of concordance for all parameters, in addition to advantages related to the use of multiplex analysis technology. Conclusion: The fully automated system associated with the use of the NeoMAP 4 Plex Kit has shown to be best option for Newborn Screening of congenital hypothyroidism, congenital adrenal hyperplasia, and cystic fibrosis. View full-text November 2015
The Rio de Janeiro State Newborn Screening Program, Programa Primeiros Passos, in April 2015 implemented Congenital Adrenal Hyperplasia and Biotinidase Deficiency screening as a complimentary and evolutionary step (FASE IV) of the Brazilian Newborn Screening Program. The introduction of new markers has had a significant impact with approximately 30.000 extra analyses in the lab routine per month.
... [Show full abstract] During the last months, the lab team evaluated the routines for positive samples, time collection and confirmed cases. Materials and Methods: Samples collected from 728 public health units of Rio de Janeiro State were analyzed for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Cystic Fibrosis, Phenylketonuria and Biotinidase Deficiency. The screening results were confirmed in partnership with other reference institutions of the State of Rio de Janeiro, as Instituto Fernandes Figueiras. Newborn Screening for Hemoglobinopathies, and diagnostic and realted clinical support, are done by HEMORIO, a partner institution inside the Programa Primeiros Passos. Sample collection time is monitored with the objective to maintain sample collection between 3-5 days, reduce usual pre analytical interferences and perform corrective action plan in public health units. Results: Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Cystic Fibrosis, Phenylketonuria and Biotinidase Deficiency screening positives are reported with confirmed cases. The sample collection time was analysed, collection during 3-5 days was 22% of the samples received. 74% of the samples received were collected with 4-30 days and 4% over 30 days. Conclusion: The Programa Primeiros Passos is committed with FASE IV of the Brazilian Newborn Screening Program to introduce new markers and analysis, as well as performing an integration of actions with other important reference institutions with the objective to prevent, treat, and offer total support to patients and parents. Time of Collection is considered critical and the challenge is a continued process of training and monitoring 728 public health units to obtain better coverage (3-5 days) and help our lab minimize potential false-positive and false-negative cases. Read more Conference Paper Full-text available September 2016
Newborn screening lab is in a consistent evolution process if considered the new technologies,
new parameters and solutions. We present in this study the evolution of fully automated systems
for newborn screening labs using 384 well microplates for quantification of phenylalanine, total
galactose, leucine/isoleucine and analysis of enzymatic activity for biotinidase. The study
... [Show full abstract] evaluated
approximately 5.000 samples from a routine newborn screening lab. The results demonstrate the gains
obtained by the lab compared with the same equipment using the 96 well microplate format. We have
increased the processing capacity with the same equipment. The time process was reduced for 3 h to
run the same number of samples, more robust movement process reducing the number of steps in 75%,
the consumables were reduced in 80%, use of transfer/filtering microplates were eliminated, sample
size was reduced from 3.00 mm to 2.1 mm and we generate much less residual substances/components,
resulting in a considerable improvement of sustainable process. The evaluation of the results in terms
of each assay is presented in graphs comparing 96 with 384 well microplates. Nimbus NeoLISA 384 shows the evolutionary process to bring continuous improvement to the newborn screening labs
and programs for screening of PKU, GAL, MSUD and biotinidase. View full-text Last Updated: 05 Jul 2022
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