Modern prenatal diagnostics in collaboration with the market leader for genome sequencing technologies
An abnormal ultrasound, the age of the mother: during pregnancy, prenatal testing for certain genetic changes in the unborn child may be advisable for various reasons. Although trisomies are rare in pregnant women of all ages, their frequency increases with age.
Procedures such as an amniocentesis or a chorionic villus sampling are stressful for the mother and carry a risk of miscarriage. However, chromosomal abnormalities in the child can also be detected in other ways. If pregnant women want to know whether a trisomy is present, we offer our own non-invasive prenatal test (NIPT) with associated laboratory analysis in collaboration with the human genetics market leader Illumina.
Early certainty without risk for mother and child
NIPT enables molecular genetic screening for the most common viable trisomies at an early stage of pregnancy: Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Pätau syndrome).
From the 10th week of pregnancy, even the smallest fragments of the child's DNA circulate in the mother's bloodstream. We can analyze this so-called "cell-free fetal DNA" (cfDNA) with our NIPT without examining the unborn child directly. A simple blood sample from the mother is sufficient for the analysis.
This means that in many cases there is no need for complex procedures with risks for the child or mother.
Our non-invasive prenatal test allows doctors to make a well-founded statement about the probability of the unborn child having one of the genetic abnormalities tested for. The detection rate for trisomy 21 is over 99%, while it is slightly lower for the other trisomies.