Many couples want to follow their child's development as early as possible. Pregnancy screening includes screening for trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and trisomy 13 (Pätau syndrome). The trisomies are chromosomal abnormalities. In most cases they are not hereditary, but occur spontaneously and can be detected early in pregnancy.

 

Gentle and easy clarity

The safest and most state-of-the-art option for this is a non-invasive prenatal test, NIPT for short. We rely on the reliable VeriSeq-NIPT from Illumina. The test detects whether there is a risk for one of the trisomies. A blood sample from the mother is sufficient. The test can be carried out from 10+0 weeks of pregnancy onwards. The decision for a prediction test is a very personal one and should be made individually by each couple. Many parents use genetic counselling to clarify questions in advance. This procedure is also recommended by medical societies.

 

How does it work?

During your pregnancy, your blood contains DNA fragments from the growing baby. VeriSeq tests the child‘s DNA on a blood sample from you to determine the risk of trisomy 21, 18 and 13.

 

Fetal sex chromosomes

VeriSeq can screen sex chromosomes X and Y for chromosomal abnormalities caused by an additional or missing copy of the X or Y chromosome, such as Turner syndrome or Klinefelter syndrome. If parents wish, VeriSeq also reveals the sex of the child. In a twin pregnancy, the test can detect a Y-hromosome but not the individual sexes of both fetuses.

 

The results

The test result provides clarity as to how high the risk of chromosomal abnormalities is during pregnancy. If the result is abnormal, further confirmatory tests are necessary before decisions about pregnancy are made.

Reliable results

Sensitivity and specifity of VeriSeq for the detection of trisomies 21, 18 and 13.*

  Sensitivity Specifity
Trisomie 21 98,9% > 99,9%
Trisomie 18 90% 99,9%
Trisomie 13 100% 99,9%

*Illumina. VeriSeq NIPT Solution Package insert. 2018; P. 29. Table 13  VeriSeq NIPT Solution Package Insert  (last access on 02.10.2020).

At one glance:

Parameter: cffDNA für Trisomie 21, 18, 13 und Geschlechtschromosomen
Time of testing: SSW 10 + 0 p.m.
Requestition:  special tubes incl. request form 
Plese note: Not available for „vanishing twin“.

Questions about the test or genetic counselling?

Feel free to contact us. We are there for you. 

 ++49 6132 781 240
 ++49 6132 781 236
 int.support@bioscientia.com