Description
The Prenetix prenatal test is designed to determine the quantitative representation of loci of the chromosomes under study to calculate the risk of a child having trisomy for chromosomes 21 (Down syndrome), 18 (Edwards syndrome), and 13 (Patau syndrome). This method of direct analysis of cell-free fetal DNA in the blood of a pregnant woman was developed by the Ariosa (Roche) laboratory. The data analysis also takes into account the age of the mother (or egg donor) and the gestational age, which are indicated on the test requisition form. This study also checks the mother for spinal muscular atrophy (SMA) carrier status. The test examines embryonic-placental extracellular DNA isolated from maternal plasma starting at 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 for the suggestion of certain disorders and syndromes, and subsequently, with this knowledge, timely treatment for the born child can be provided. However, it should be kept in mind that this is a screening test, meaning a diagnosis cannot be made based on its results. It assesses the probability of chromosomal abnormalities but does not allow for their definitive diagnosis even if a high risk is identified. The result of this test is not a diagnosis, but only a statistical probability figure. If there is a risk of disorders, one can be prepared for the diagnosis and take steps in advance to ensure specialized support and medical care for the child. With modern medical capabilities, a sufficiently high quality of life is possible for many congenital pathologies. Analysis of sex chromosomes is performed only in singleton pregnancies. The detection of an increased risk of developmental defects in the child is not a diagnosis. False-positive results are possible. Limitations of the method: - aneuploidies of other autosomes (chromosomes) are not determined; - chromosomal abnormalities or chromosomal mosaicism in the mother; - gestational age less than 10 weeks at the time of blood collection for the study; - a singleton pregnancy that began as a twin pregnancy ("vanishing twin"); - the number of fetuses exceeds two; - blood transfusion within the last 3 months; - organ, bone marrow, or stem cell transplantation in the past (in these cases, there is an increased risk of a false test result); - presence of an oncological disease; - in pregnant women with obesity, the concentration of the fetal DNA fraction is reduced due to a larger volume of circulating blood, which can lead to false results.
Period of execution
Within 21 days. The specified time does not include the day of biomaterial collection
Biomaterial type