Performance evaluation of the neonatal screening program in the state of Rio de Janeiro

A avalia????o de desempenho do programa de triagem neonatal (PTN) do estado do Rio de Janeiro (RJ) teve como foco os componentes de estrutura e processo. A pesquisa foi realizada em tr??s etapas: (1) revis??o bibliogr??fica sobre a cobertura efetiva e o momento da coleta dos testes em PTN de diversos pa??ses do mundo, especialmente no Brasil; (2) an??lise retrospectiva dos resultados obtidos pelos dois Servi??os de Refer??ncia em Triagem Neonatal (SRTN) do estado do RJ entre 2005 e 2007; (3) avalia????o nos dois modelos de PTN e em uma amostra de conveni??ncia de 66 Unidades de Coleta (UC) selecionadas em 92 Munic??pios do estado do RJ a partir de instrumento desenvolvido para avalia????o de PTN.Nos pa??ses industrializados, a cobertura efetiva e a coleta oportuna est??o consolidadas. Naqueles em desenvolvimento, h?? obst??culos de natureza pol??tica, econ??mica, social ecultural a serem superados. No Brasil, h?? heterogeneidade de cobertura em fun????o do est??gio de implanta????o dos PTN. No estado do RJ, em 2007, a cobertura chegou a 88,2%,com 61,7% das coletas realizadas acima de 8 dias e com incid??ncia global de hipotireoidismo cong??nito de 1:1.030 rec??m-natos vivos e de fenilceton??ria de 1:25.025 rec??m-natos vivos. Houve diferen??as nas incid??ncias de hipotireoidismo cong??nito efenilceton??ria entre os dois modelos de PTN e ao longo do tempo. As incid??ncias da doen??a falciforme (1: 1.288 rec??m-natos) e do tra??o falc??mico (1: 21 rec??m-natos) foram elevadas e homog??neas em ambos os modelos e ao longo do tempo, al??m de compat??veis com a etnia da popula????o. Os intervalos de tempo intermedi??rios entre o nascimento e a confirma????o diagn??stica estavam acima das metas preconizadas resultando em mediana de idade no diagn??stico de 48 dias, no modelo A, e 47,5 dias, no modelo B. A avalia????o das UC mostrou unidades de sa??de alcan??ando desempenho satisfat??rio e muitas outras com problemas de acesso, falhas na capacita????o de profissionais e falta de material para coleta e educacional. Os atrasos na libera????o dos resultados dos testes foram atribu??dos a caracter??sticas do fluxo em um dos modelos, e insufici??ncia de recursos materiais e humanos em ambos. Os resultados indicam que as atividades de TN est??o incorporadas ??s a????es b??sicas de sa??de da crian??a em quase toda a rede de servi??os p??blicos de sa??de, e que as condi????es t??picas das unidades permitem que o PTN alcance bom desempenho. N??o obstante, ajustes no PTN, em todos os n??veis, foram apontados com vistas a incrementar sua efetividade. Essa abordagem poder?? ser replicada em outros PTN.The performance evaluation of the newborn screening program (NBSP) of the State of Rio de Janeiro (RJ) focused on its structure and process components. The research was performed in three stages: (1) bibliographic review on the effective coverage and timeliness of bloodspot specimen collections in NBSP of different countries worldwide, especially in Brazil; (2) retrospective analysis of the results obtained by the two existing NPSP models in the State of Rio de Janeiro, from 2005 to 2007; (3) evaluation of the two models and a convenience sample of 66 Collecting Units (CU) selected from 92 Municipalities of the State of RJ after the development of an evaluation tool for NBSP. In industrialized countries, effective coverage and timely bloodspot collection are consolidated. In the developing ones, there are obstacles of politic, economic, social and cultural nature to be overcome. In Brazil, the coverage is heterogeneous in view of the establishment stage of the NBSP. In the State of RJ, in 2007, coverage reached 88,2%, with 61,7% of collection performed later than the 8th day of life and with a global incidence of congenital hypothyroidism of 1:1,030 of live newborns, and of phenylketonuria of 1:25,025 of live newborns. There were differences regarding congenital hypothyroidism and phenylketonuria incidences between both models and the time interval considered. Incidence of sickle cell disease (1:1,288 newborns) and falcemic trait (1:21 newborns) were homogeneous in both models and in the time interval considered, as well as compatible with the population ethnicity. Intermediate time intervals from birth and diagnostic confirmation were longer than the recommended timing resulting in a median age of diagnosis of 48 days at A model, and 47,5 days at B model. The evaluation of the CU showed healthcare units reaching a satisfactory performance, while many others having access problems, failures in staff training, lack of material supply for collecting bloodspot specimens as well as of instruction material. The delays in results liberation of tests were attributed to the flow features of one the models, and insufficiency of material and human resources in both. Results indicate that NBS activities are incorporated to the basic children healthcare in almost every service of the public healthcare network, and that the typical unit conditions can allow NBSP reach a good performance. However, NPSP adjustments were indicated at all levels in order to improve its effectiveness. This approach may be replicated in other NBSP