Testing foetal DNA using the mother's blood

This antenatal diagnosis test uses a blood sample from mothers to detect chromosomal abnormalities in babies

Test de ADN fetal en sangre materna - Instituto Bernabeu

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The screening test that is used in order to rule out the most common chromosomal abnormalities is a foetal DNA analysis. It is possible to detect abnormalities of this kind in a sample of blood collected from the mother, which is then quantified using an avant-garde technological process called next-generation sequencing. Depending on the laboratory that performs the test, there are a number of different commercial names for it. For example, harmony®, nace®, Trisonim® ,Clarigo®, Vanadis®, Panorama®, Neobona® etc. 

The test can be performed very early on from week ten of pregnancy. The result includes a statistical study of the chances of having any of the disorders that are analysed. 

The test is incredibly reliable. According to recent publications, it has detection rates in excess of 99% and false positive rates as low as 0.1%. The main difference in comparison with the tests that are currently routinely used, therefore, is that the number of false positives is up to five times lower meaning that a great deal of unnecessary invasive tests can be avoided. Many amniocenteses can be avoided and the test provides us with a precise assessment of the risk of the trisomies that cause most chromosomal abnormalities.

 

FOETAL DNA TEST

 

The test:

  • Analyses the aneuploidies in chromosomes 13, 18, 21 X and Y
  • Is suitable for use in twin pregnancies and following egg donation
  • Can analyse aneuploidies in sex chromosomes in single foetus pregnancies only
 

EXTENDED FOETAL DNA TEST

 

The test:

  • Analyses the aneuploidies in chromosomes 13, 18, 21 X and Y plus 22q11.2 deletion syndrome (DiGeorge syndrome)
  • Is suitable for use following egg donation
  • Can analyse 22q11.2 microdeletion in single foetus pregnancies only
 

COMPLETE FOETAL DNA TEST

 

The test:

  • Analyses the aneuploidies of all 24 chromosomes as well as microdeletions
  • Is suitable for single foetus pregnancies, including following egg donation
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