qTrisomy® Plus Test. Non-invasive prenatal diagnosis

The qTrisomy Test® is a non-invasive laboratory test that allows risk estimating of a trisomy 13, 18 or 21 in the fetus, as well as the presence of an aneuploidy in the sex chromosomes (besides of knowing the fetal sex) based on the analysis of maternal blood.

To this end, free fetal DNA present in maternal plasma is analyzed by means of NGS and state-of-the-art bioinformatics tools.

What does qTrisomy® offer?

+ SECURITY. The test is a harmless for the fetus since it is based fon maternal blood.

 

+ SENSITIVITY and SPECIFICITY. Published studies report a sensitivity and specificity greater than 99% for the detection of trisomy 21.

 

+ ROBUSTNESS. It does not depend on cell culture and can be performed during a wide range of weeks of gestation.

Sensitivity Specificy VPP VPN
Trisomia 13 [1] 100% 98,9% 89,3% 100%
Trisomia 18 [1] 91,9% 98,0% 87,2% 98,8%
Trisomia 21 [2] 100% 97,9% 96,6% 100%

When CAN a qTrisomy® Plus Test be performed?

  • During pregnancy from week 10 of gestation onwards.
  • In multiple gestations (from week 12 onwards). In these cases fetal sex cannot be reliably determined, nor will it be possible to report the existence of aneuploidies of sex chromosomes.
  • Gestations obtained from donor egg.

What is an aneuplodia?

An aneuploidy is a chromosomal alteration that occurs when there is a variation in the number of copies of a chromosome. There are two main types: trisomies and monosomies.

 

Trisomies refer to the presence of an additional copy of a chromosome in the genome of an individual. The trisomies that affect chromosomes 13, 18 and 21 are compatible with life and are the cause of the Patau, Edwards and Down syndromes, respectively. It is estimated that, together, they have a prevalence of 1 per 700 births and represent one of the main causes of genetic disease. Trisomies in the sex chromosomes also occur frequently (~1 / 1000) but have a much milder phenotypic repercussion.

 

Monosomies occur when one of the two copies of a chromosome is missing. Turner syndrome (45, X0) is produced by the monosomies of the X chromosome in a woman. It is estimated that it has an incidence of 1 in 2000 girls born.

Descarga el consentimiento informado y la hoja de solicitud específica AQUÍ

Accede a la plataforma de pedidos Pedido sin plataforma
Requisitos de las muestras biológicas
    • La prueba se realiza a partir de 5-10mL de sangre periférica, recogida en un tubo Streck Cell-Free DNA™ BCT.
    • El tiempo que pasa desde la extracción de la sangre es clave para la estabilidad y la calidad del ADN fetal que se obtendrá. Por este motivo recomendamos proceder con el envío cuanto antes.
¿Cómo solicitar el test?
1) Preparar la hoja de solicitud del test

Cumplimentar toda la información disponible, especialmente fecha de nacimiento y sexo. Puede ser desde la plataforma (intranet) de pedidos, o bien mediante el documento en PDF.

2) Imprimir la hoja de solicitud.

Una vez debidamente cumplimentada, imprimir y firmar.

3) Recoger la muestra correspondiente.

Destacar la importancia de identificar correctamente la muestra con el nombre o identificador indicado en la solicitud.

4) Preparar adecuadamente para el envío.

Proteger la muestra biológica y adjuntar la hoja de solicitud y el consentimiento informado.

5) Solicitar la recogida de la muestra al 932 301 270
Preparación para el envío
Llámenos al 932 301 270 cuando tenga todo preparado y pasaremos a recoger sus muestras.

Las muestras de sangre en EDTA, ADN purificado, saliva y sangre en papel son estables a temperatura ambiente durante 3 o 4 días. Las muestras pueden mandarse, convenientemente protegidas, por correo ordinario o mensajería.