Estudio de DNA fetal en sangre materna en embarazo detenido


¿Qué importancia tienen las alteraciones genéticas y cromosómicas en la pérdida del embarazo?

El aborto espontáneo es la complicación más frecuente del embarazo temprano. Se estima que entre un 10-15% de los embarazos terminan en un aborto espontáneo, principalmente durante las 13 primeras semanas del embarazo. Estas pérdidas gestacionales se deben normalmente a factores fetales y maternos, sin embargo, en un 50% de los casos, los abortos que se producen durante el primer trimestre de gestación son originados por alteraciones genéticas y anomalías cromosómicas en el embrión. De este porcentaje, las alteraciones numéricas (trisomías, monosomías, poliploidías, etc) están involucradas en un 96% de los casos. Por ello, analizando anomalías cromosómicas en casos de abortos espontáneos, es posible identificar la causa de la detención del embarazo en un porcentaje superior al 90%.

¿Qué ofrecemos?

Desde OmicasLab, ofrecemos una prueba que proporciona respuestas sobre la posible causa de pérdida del embarazo, detectando si fue debida a la presencia de anomalías cromosómicas en el feto. Se trata de un ensayo de screening no invasivo en plasma materno que detecta aneuploidías cromosómicas y CNVs (variaciones en el número de copias) en el feto, cuando la gesta se ha detenido espontáneamente, con el fin de identificar una causa cromosómica responsable. Esta prueba resulta útil en la detección no invasiva de aneuploidías a partir de las 7 semanas de gestación y dentro de las 2-3 semanas de detenido el embarazo en forma espontánea. Para ello, gracias al empleo de secuenciacion de nueva generación, analiza los fragmentos de ADN fetal que fueron liberados del trofoblasto placentario, y que aún circulan libremente en la sangre materna, siendo posible identificar si existían anomalías cromosómicas que provocaran la pérdida del embarazo.

Entre las anomalías más prevalentes que esta prueba es capaz de detectar se encuentran, entre otras:


  • Trisomía 21 (Síndrome de Down)

  • Trisomía 18 (Síndrome de Edwards)

  • Trisomía 13 (Síndrome de Patau)

  • Trisomía 7, 9, 14, 15, 16, 22: son las trisomías más frecuentes causantes de la perdida de embarazo. Estas trisomías pueden afectar a todas las células del organismo, en cuyo caso se denomina trisomía pura, o ser un mosaicismo en el que algunas células presentan la dotación cromosómica normal y otras no. El 92% de los fetos con estas trisomías puras fallecen entre los 4 y 9 meses del embarazo, produciéndose un aborto espontáneo

Aneuploidías cromosómicas sexuales

  • Síndrome de Turner (45, X0)
  • Síndrome de Klinefelter (47, XXY)
  • Trisomía del cromosoma X (47, XXX)
  • Síndrome de Jacobs o Disomía del Y (47, XYY)

Características del test y aplicaciones

  • Para detección no invasiva de aneuploidías en gesta detenida en forma espontánea

  • Especialmente útil en pacientes con abortos recurrentes

  • Indicada a partir de las 7 semanas de gestación y durante todo el embarazo

  • A realizar dentro de las 2-3 semanas de detenido el embarazo en forma espontánea

  • Identifica aneuploidías en todos los cromosomas

  • Determina el sexo fetal

  • Detecta variante en número de copias (CNV) patogénicas

  • Útil en embarazos únicos, gemelares, ovodonación y FIV

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