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Novedades en la prueba “del talón”

Escrito por Isabel Rubio el 20 febrero 2012 dentro de Educación para la Salud: El recién nacido, Enfermedades de la Infancia, General | Lea el primer comentario

Os hablaba el pasado 25 de enero de La prueba “del talón”, que consiste en la extracción y análisis de unas gotas de sangre del talón del recién nacido para detectar la presencia de algunas enfermedades congénitas, enfermedades presentes desde el nacimiento en las que la detección y tratamiento precoz mejoran su evolución. Pues bien hay novedades en la Comunidad Valenciana.
Desde el día 17 el cribado neonatal se amplía y no sólo se va a detectar el hipotiroidismo congénito y la fenilcetonuria, también la anemia de células falciformes y la fibrosis quística.
En la primera toma de muestra se detecta hipotiroidismo y anemia falciforme a la vez y los padres firmarán la autorización. En la segunda, que se suele hacer en el Centro de Salud entre el 3º y 5º día de vida, se detecta fenilcetonuria y fibrosis quística. Hay que hacer una reevaluación de hipotiroidismo a los 15 días y al mes en prematuros menores de 32 semanas o de menos de 1.5 kg de peso y a todos los gemelos.
NO es necesario el AYUNO.
Y volvemos otra vez al talón, pues la toma de muestra debe ser preferentemente del talón.

La realización de esta prueba no es obligatoria (de ahí la necesidad de firmar una autorización) pero sí muy recomendable. Brevemente veamos las 4 enfermedades que se detectan.
Hipotiroidismo congénito:
El recién nacido no produce suficiente hormona tiroidea, pero no da ningún síntoma de entrada y el déficit hormonal va afectando a su desarrollo físico y mental, ocasionando una discapacidad severa.
Anemia de células falciformes:
Sus síntomas aparecen durante los primeros meses de vida, pero si el tratamiento se instaura pronto la evolución mejora notablemente. La prueba del talón puede poner de manifiesto que el bebé la padece o que sólo es portador de ella, lo que también es importante de cara a su descendencia y por tanto es posible intervenir en consejo genético.
Fenilcetonuria:
Es una enfermedad del metabolismo de la fenilalanina. Sin el tratamiento dietético necesario se produce un retraso mental grave e irreversible.
Fibrosis quística:
Enfermedad genética que afecta sobre todo al aparato digestivo y respiratorio. Su detección y tratamiento precoz mejora la nutrición, el crecimiento, la función pulmonar, en definitiva la supervivencia. El cribado sirve para saber si padece la enfermedad o es un portador sano.