Poster

Continuous Improvement in the Newborn Screening Program of the State of Rio de Janeiro, Brazil.

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Abstract

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. 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.

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