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.
Trisomia 13 
Trisomia 18 
Trisomia 21 
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
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.
Para solicitar un test, simplemente tiene que rellenar el formulario de petición de servicio que se puede descargar en formato PDF editable en esta página, y hacérnoslo llegar junto a la muestra a analizar: