Estoy embarazada ¿Qué pruebas de diagnóstico fetal puedo realizar?

14-10-2013

Hoy en día existe una recomendación Internacional de ofrecer a toda embarazada, independientemente de su edad o riesgo de embarazo, la posibilidad de realizar técnicas de Diagnostico Prenatal de cromosomopatías. En Centro Ginecológico Elcano podrá consultar cúal es la prueba que puede realizarse y con el asesoramiento de profesionales optar por la más adecuada.

Creemos más aconsejable la realización previa de un Test de Screening, dado su alta tasa de diagnostico, dejando los Test de Diagnostico para casos seleccionados debido a su posibilidad de perdida gestacional.
Durante la última década se ha desarrollado el denominado Test Combinado del Primer Trimestre, con unas tasas de detección elevadas, considerándose una prueba de primer orden, pero la irrupción en el 2013 en la práctica clínica de la Determinación de DNA en Sangre Materna, con unas tasas de diagnostico mejores y menos falsos diagnósticos, ha conllevado el replanteamiento de los protocolos de screening de cromosomopatías. Es una prueba novedosa y con elevado coste, que no está, a día de hoy, incluida en las prestaciones de la Sanidad Pública ni en las coberturas de las pólizas más habituales de Sanidad Privada. Toda embarazada tiene la posibilidad de realizar esta prueba en vez de test combinado, añadida al Test Combinado presentando algunas ventajas o en contingencia con el Test combinado, es decir en función de su resultado.
Resulta interesante la utilización conjunta de ambas pruebas, en contingencia. Así en general recomendamos la realización de un Test combinado del primer trimestre y en relación a su resultado te recomendaremos:

  • Riesgo < 1/270: Realización de Test Diagnostico (Amniocentesis, vellosidad corial)
  • Riesgo 1/270 a 1/3500: Realización de Determinación de DNA en sangre Materna
  • Riesgo > 1/3500: Control gestacional normal.

Realizándolo de esta manera, existen estudios que diagnostican el 97% de los Síndromes de Down, determinando DNA en Sangre Materna a una de cada cuatro embarazadas y realizando Amniocentesis solamente al 0.4% del total de  las pacientes.
Aunque esta es una recomendación general, creemos que cada pareja debe de decidir, con el apoyo de su equipo ginecológico, cual es la técnica más adecuada y que encaja en sus expectativas  en base a diferentes tasas de diagnóstico, perdida fetal y costes económicos.

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