Sabías que con 4 gotas de sangre de un recién nacido se pueden detectar hasta 66 enfermedades congénitas?

En Méjico, a los 2 días de haber nacido mi nieto, la pediatra le mandó a hacer un TAMÍZ METABÓLICO NEONATAL AMPLIADO PLUS, un analisis que, con unas gotas de sangre pueden prevenir muchas enfermedades.

Estas enfermedades se caracterizan por defectos en el metabolismo de diferentes sustancias, indispensables para el crecimiento y desarrollo correctos del organismo, defectos que pueden interferir con diversas funciones esenciales, que afectan aparatos y sistemas, causando alteraciones que, una vez establecidas, son irreversibles, y pueden llevar la muerte temprana del bebe afectado.

Las enfermedades metabólicas congénitas no se curan, solo se pueden controlar, pero con el diagnostico precoz y  el inicio del tratamiento, los bebés que las padecen,  pueden llevar una vida normal.

Aquí en Méjico,  es obligación realizar esta prueba a los bebes recién nacidos con el objeto de descubrir y tratar oportunamente enfermedades genéticas irreversibles, que no se pueden detectar durante el nacimiento ni por medio de una revisión médica cuidadosa.

Mediante esta prueba, se detectan de 5 a 66 enfermedades por alteraciones del metabolismo de carbohidratos, aminoácidos, además de diagnosticar alteraciones de la tiroides, enfocados a moléculas más pequeñas que pueden provocar retraso mental, principalmente hipotiroidismo congénito y otras manifestaciones graves como fenilcetonuria (incapacidad para descomponer apropiadamente un aminoácido llamado fenilalanina), y fibrosis quística (enfermedad hereditaria que causa discapacidad progresiva y muerte prematura).

El momento ideal para realizar esta prueba, es durante las primeras 48 a 72 horas posteriores al nacimiento, cuando el bebé ha empezado su alimentación. Consiste en el análisis de cuatro gotas de sangre, extraídas de la parte lateral del talón del bebé, que se colectan en un papel filtro especial llamado “Tarjeta de Guthrie”, para después ser enviadas al laboratorio y ser examinadas.

Si los niveles de la hormona TSH están elevados, puede indicar la ausencia de la glándula tiroides; función inadecuada de la misma o porque se encuentre en un lugar diferente a su sitio normal.

Si el recién nacido es susceptible de desarrollar algún trastorno metabólico, se puede confirmar el diagnóstico y apoyarse de otros estudios de gabinete como radiografías, Electroencefalogramas, tomografía cerebral y ultrasonido abdominal, que ayudarán a definir el diagnóstico e iniciar el tratamiento.

Si el resultado es anormal, se inicia tratamiento multidisciplinario: farmacológico durante los dos primeros años, cuando ocurre la maduración del cerebro; así como estimulación temprana, rehabilitación y terapia de lenguaje. Haciendo la detección oportuna, se comienza el tratamiento en el primer mes de vida para poder mejorar la salud del recién nacido.

Esta herramienta es de gran utilidad para evitar que los pequeños padezcan enfermedades que pongan en riesgo su salud y, sobre todo, su vida

En Argentina el Poder Legislativo Nacional sancionó la ley 24438 donde decreta la realización y seguimiento obligatorio de esta prueba en todos los establecimientos públicos de la seguridad social y privados en que se atiendan partos y/o recién nacidos.

Lamentablemente muchas veces esta ley no se cumple y en otras ocasiones  ni siquiera se tiene mucha información de su existencia, digo lamentablemente porque estas enfermedades tratadas a tiempo se pueden corregir o curar y con el seguimiento y terapia adecuado se puede llevar una vida normal.

Si tenes alguna amiga embarazada, pasale esta información para que solicite que a su bebe recien nacido se  le realice esta importantísima prueba.

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101 thoughts on “Sabías que con 4 gotas de sangre de un recién nacido se pueden detectar hasta 66 enfermedades congénitas?”

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