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Con el objetivo principal de aportar información sobre la eficacia/efectividad del cribado neonatal de la hiperplasia suprarrenal congénita, se ha llevado a cabo una revisión sistemática de la literatura mediante un protocolo previamente establecido.
Se incluyeron 17 artículos originales y 2 revisiones sistemáticas. Los estudios analizados ponen de manifiesto que el cribado neonatal de la hiperplasia suprarrenal congénita consigue un adelanto de la fecha de diagnóstico de la enfermedad y detectar a la mayoría de los niños con riesgo de crisis por pérdida salina antes de que ésta aparezca.
Hay discrepancias acerca de cuál es el protocolo más adecuado para el desarrollo del programa de cribado neonatal. Los aspectos más críticos son: el umbral de 17-hidroxiprogesterona por encima del cual se debe considerar anormal un resultado y el momento de tomar la muestra. Para la puesta en marcha de este programa de cribado es necesario tener en cuenta, además de los resultados del conocimiento científico, las circunstancias y las consecuencias reales en una población determinada.
Palabras clave:
Cribado neonatal
Cribado poblacional
Hiperplasia suprarrenal congénita
To provide information on the efficacy/effectiveness of neonatal screening for congenital adrenal hyperplasia, we performed a systematic review of the literature according to a previously established protocol. Seventeen original articles and 2 systematic reviews were included. The studies analyzed reveal that neonatal screening for congenital adrenal hyperplasia leads to earlier diagnosis and identifies most children at risk of saltwasting crises before these occur.
Discrepancies exist on the most appropriate protocol for the development of this type of screening program. The most critical features are the threshold of 17-hydroxyprogesterone that should be considered an abnormal result and the timing of sampling. The introducing of this type of screening program should take into account not only the results of scientific knowledge, but also the circumstances and real consequences in a particular population.
Key words:
Neonatal screening
Mass screening
Congenital adrenal hyperplasia
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