Metodología de asesoramiento genético para una embarazada afectada con el Síndrome Noonan.
Abstract
Con el presente trabajo se propone una metodología de asesoramiento genético a una gestante afectada con Síndrome Noonan, que desea conocer que riesgo presenta su futuro hijo de padecer la enfermedad. La misma fue diseñada teniendo en cuenta los cuatro pilares del asesoramiento genético: diagnóstico, estimación del riesgo, comunicación y soporte o basamento. Se realizó una revisión bibliográfica detallada sobre los aspectos más relevantes de la enfermedad en cuestión y del asesoramiento genético en forma general. Se confeccionó un documento informativo con el propósito que la paciente y su familia lograran comprender adecuadamente toda la información brindada con respecto a la afección.
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