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PGT-EM Test genético de preimplante para enfermedades monogénicas

TEST GENÉTICO DE PREIMPLANTE PARA ENFERMEDADES MONOGÉNICAS (PGT-EM)

Existen diversas enfermedades resultado de mutaciones genéticas específicas en el ADN. Las personas o parejas que portan estas alteraciones genéticas, o que tengan familiares que las posean, tendrán un mayor riesgo de tener un hijo afectado por esta alteración. El PGT-EM se encarga de buscar en el embrión posibles alteraciones genéticas que hayan sido identificadas previamente en los progenitores para evitar su transmisión a la descendencia.

Esta técnica puede identificar previamente a la transferencia, los embriones que estén libres de estas anomalías, con el objeto de lograr el nacimiento de un bebé que no posea la alteración genética y reduciendo además la posibilidad de aborto.

Esta técnica está dirigida a parejas que se encuentran en riesgo de transmitir a sus hijos una determinada enfermedad monogénica, o trastorno genético único, siempre y cuando haya sido identificado previamente en los progenitores.

El PGT-EM es aplicable en los siguientes escenarios:

  • Parejas de portadores con una misma afección autosómica recesiva (por ejemplo, fibrosis quística).
  • Portador de una afección ligada a X (por ejemplo, distrofia muscular de Duchenne).
  • Pacientes con una afección autosómica dominante (por ejemplo, enfermedad de Huntington).
  • Pacientes con una mutación asociada con un síndrome de cáncer hereditario (por ejemplo, BRCA1 y 2).
  • Parejas con un hijo o un embarazo con un desorden monogénico.

¿Cómo se realiza un PGT-EM?

Para llevar a cabo esta técnica, la paciente debe someterse en primer lugar a un ciclo de fecundación in vitro. Posteriormente, los óvulos fecundados obtenidos son cultivados en el laboratorio durante varios días, después de los cuales se les realiza una biopsia embrionaria mediante la cual se extrae cuidadosamente un grupo de células.

A continuación, se efectúa el estudio genético correspondiente en este material biopsiado, permitiendo identificar mediante NGS, aquellos embriones portadores de las anomalías genéticas analizadas, transfiriendo posteriormente los que estén libres de estas alteraciones.

FUENTE IMAGEN: https://www.reproduccionasistida.org/procedimiento-del-dgp/

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