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Trisomy 21 (Down syndrome) + (optional) foetal sexing

elige tu test genético

What do we offer?

  • icono de laboratorioDetects: Down syndrome (trisomy 21)
    Patients must be of at least 10 weeks gestational age
  • icono de fiabilidad facultativo Reliability: 99.9%
  • icono de asesoramiento facultativoCounselling: By an expert in genetics
  • icono de la muestraBlood draw sample at extraction center
    More than 50 centers in Spain: See List
    It is not necessary to be in a fasted state before blood extraction
  • icono de tiempoResults in: 6 to 9 days*
  • 194 **
  • [*] Labour days counting from reception of the sample at the laboratory.
    [**] Only available in Spain.

elige tu test genético

Why should you request this service?

What is the purpose of this analysis?

  • To detect the presence of the genetic marker causing the Down syndrome in the foetus (chromosome 21 trisomy).

  • To answer your doubts and concerns with a simple blood draw analysis.

  • To know, if you wish, your future baby's gender.

  • To enable you to take preventative measures, always into the current regulations, in case of detection.

Should you do it?

  • If you are older than 35 years.

  • If you present fetal abnormalities.

  • If you previously had a pregnancy with abnormalities in chromosome number.

  • If you present hereditary risk of abnormal chromosome number.

  • If a high risk of abnormal chromosome number was detected by the biochemical screening in the first trimester.

How does it work?

  1. descarga el PDF
    Download the order details from your private area.
  2. descarga el PDF
    Go to an extraction centre.
  3. instrucciones de uso
    One of our partner labs makes the analysis.
  4. instrucciones de uso
    Your healthcare professional presents your results.
go further

To go further:

Subtitles available in both English and French

additional information

  • ¿How is this process done?

      An analysis of the fetal DNA contained in the blood of the mother is performed via massive fetal genome sequencing using the Next Generation Sequencing technique.

  • ¿What is qNIPT technique?

      qNIPT determines differences between methylation patterns in specific maternal and foetal DNA genetic regions. Certain genetic regions of the maternal DNA are hypometilated while the same regions are hypermetilated in the case of foetal DNA. These specific metilated genetic regions are used as DNA biomarkers for detection of the trisomy 21 on the fetus.

      qNIPT test for trisomy 21 detection is an reliable and robust method appropiate for clinical routine, according to international medical associations.

  • q-NIPT T21 by q-PC Test limitations
      • This method is based in the cuantification of allelic dose, so it is restricted to structural anomalies.
      • Since foetal DNA proceed from apoptosis from trophoblast cells, q-NIPT T21 by q-PCR Test can throw false-positive or false-negative results because of placenta confined mosaicism and foetal mosaicism.
      • In case of twin pregnancy with evanescent foetus presence, q-NIPT T21 by q-PCR Test cannot be done.
      • Presence of CNVs (copy number variations).
      • This test is only for singleton gestations.
      • Maternal alterations: alterations that can affect or limit the test results (preeclampsia, heparin treatment, overweight…).
      • The results can be altered by presence of mutations or unclassified variations.

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