Description
"Prenetix" prenatal test is intended to determine the quantitative representation of loci of the investigated chromosomes to calculate the risk of trisomy in the child for chromosomes 21 (Down syndrome), 18 (Edwards syndrome), and 13 (Patau syndrome). This methodology of direct analysis of cell-free fetal DNA in the pregnant woman's blood was developed in the Ariosa laboratory (Roche). The analysis of data also takes into account the mother's age and gestational age, which are indicated in the referral form for the study.
The test examines embryonic-placental cell-free DNA isolated from maternal plasma from 10 weeks of gestation. Prenetix offers a personalized risk assessment that shows whether the child is at risk of developing a genetic disease. The study allows assuming certain disorders and syndromes and then, knowing about them, conducting timely treatment of the born child. However, it should be taken into account that this is a screening test, meaning a diagnosis cannot be made based on its results. It assesses the probability of chromosomal pathologies but does not allow unequivocally diagnosing them even with a detected high risk. The result of this test is not a diagnosis, but merely a statistical probability figure.
Prenatal genetic testing assesses the risk of chromosomal anomalies. If there is a risk of disorders, one can be prepared for the diagnosis and take care in advance to ensure specialized support and medical care for the child. With modern medical capabilities, a sufficiently high quality of life is possible with many congenital pathologies.
Detection of an increased risk of malformations in a child is not a diagnosis. False-positive results are possible.
Methodology limitations:
- Aneuploidies of other autosomes (chromosomes) are not determined.
- Chromosomal anomalies or chromosomal mosaicism in the mother.
- Gestational age less than 10 weeks at the time of blood sampling for the study.
- Singleton pregnancy that started as a twin pregnancy ("vanishing twin").
- The number of fetuses exceeds two.
- Blood transfusion within the last 3 months.
- History of organ, bone marrow, or stem cell transplantation (in these cases, there is an increased risk of a false test result).
- Presence of an oncological disease.
- Test without determination of sex chromosome aneuploidies.
- In case of overweight – pregnant women with obesity have a reduced concentration of the fetal DNA fraction due to a larger volume of circulating blood.
Period of execution
Within 17 days. The specified time does not include the day of biomaterial collection
Biomaterial type