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Test genético prenatal en sangre materna

TEST GENÉTICO PRENATAL EN SANGRE MATERNA 

Fundamentos del estudio

Las anomalías cromosómicas son causantes de una elevada proporción de abortos espontáneos y enfermedades infantiles, contribuyendo también al desarrollo de procesos malignos tanto en la edad infantil como adulta. Estas alteraciones son la primera causa de pérdidas embrionarias y fetales del primer trimestre, presentando aproximadamente el 50% de los abortos espontáneos alguna alteración cromosómica del tipo trisomía, poliploidía o monosomía, entre otras.

El riesgo de que el feto presente anomalías cromosómicas aumenta a medida que aumenta la edad gestacional de la madre, creciendo drásticamente después de los 35 años. Por todo ello, el diagnóstico prenatal temprano de anomalías cromosómicas es una herramienta esencial y necesaria en el control prenatal actual.
Para este propósito, surge el Test Prenatal No invasivo (NIPT según sus siglas en inglés), un ensayo de screening que proporciona respuestas sobre la posible presencia de anomalías cromosómicas fetales sin riesgo para la madre ni el feto.

Esta prueba analiza los fragmentos de ADN fetal liberados del trofoblasto placentario, y que circulan libremente en la sangre materna, siendo posible identificar qué individuos están en riesgo y para cuáles se recomienda una investigación adicional mediante técnicas diagnósticas invasivas como amniocentesis o la biopsia de vellosidades coriónicas.

Este estudio determina el posible riesgo del feto de presentar trisomías, es decir, alteraciones que ocurren cuando un individuo presenta un cromosoma adicional en comparación con el par cromosómico habitual, aneuploidías cromosómicas sexuales (variaciones en el número de cromosomas X e Y), opcionalmente, el sexo fetal, así como también en forma incidental, puede detectar aneuploidías menos frecuentes, en cromosomas 7, 9, 14, 15, 16 y 22, algunas de ellas asociadas a pérdidas de embarazo y retardo intrauterino de crecimiento
Esta prueba es adecuada para todas las mujeres embarazadas ya que evita los riesgos asociados a las pruebas de diagnóstico invasivas, y se puede realizar desde la 9ª semana de embarazo en adelante.

Metodología: NGS Next Generation Sequencing

Tras la extracción de una muestra de sangre de la madre, esta prueba analiza los fragmentos de ADN fetal que son liberados y circulan libremente en la sangre materna. A continuación, el test permite el análisis del ADN fetal mediante Secuencia Masiva Paralela, haciendo posible la detección de:

Trisomías
– Trisomía 21 (Síndrome de Down)
– Trisomía 18 (Síndrome de Edwards)
– Trisomía 12 (Síndrome de Patau)

Aneuploidías cromosómicas sexuales
– Síndrome de Turner (45,X)
– Síndrome de Klinefelter (47, XXY)
– Trisomía del cromosoma X (47, XXX)
– Síndrome de Jacobs o Disomía del Y (47, XYY)

Sexo fetal

Hallazgos incidentales: aneuploidías de cromosomas 7, 9, 14, 15, 16 y 22
Esta prueba es capaz de proporcionar respuestas incluso si la fracción fetal está entre el 3 y el 4%, lo que reduce el número de pruebas invasivas innecesarias evitando el riesgo tanto fetal como materno.

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