Description
The Prenetix prenatal test is designed to determine the quantitative representation of the loci of the chromosomes under investigation to calculate the risk of the child having trisomy for chromosomes 21 (Down syndrome), 18 (Edwards syndrome), and 13 (Patau syndrome). This method of direct analysis of the child's cell-free DNA in the pregnant woman's blood was developed at the Ariosa (Roche) laboratory. The data analysis also takes into account the mother's (or egg donor's) age and gestational age, which are indicated in the test requisition form.
The test examines fetal-placental extracellular DNA isolated from maternal plasma from 10 weeks of gestation. Prenetix offers a personalized risk assessment that indicates whether the child is at risk of developing a genetic disease. The study allows assuming certain disorders and syndromes and then, knowing about them, providing timely treatment for the born child. It should be noted 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 for their definitive diagnosis even if a high risk is detected. The result of this test is not a diagnosis, but merely a statistical probability figure.
If there is a risk of disorders, one can be prepared for the diagnosis and take care in advance to provide specialized support and medical assistance to the child. With modern medical capabilities, a sufficiently high quality of life is possible with many congenital pathologies.
Analysis of sex chromosomes is performed only in singleton pregnancies. Detection of an increased risk of malformations in the child is not a diagnosis. False-positive results are possible.
Methodology limitations:
aneuploidies for 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;
transplantation of organs or bone marrow, stem cells in the past (in these cases, the risk of a false test result is increased);
presence of an oncological disease;
in pregnant women with obesity, the concentration of the DNA fetal fraction is reduced due to the larger volume of circulating blood, which may lead to false results.
Period of execution
Within 21 days. The specified time does not include the day of biomaterial collection
Biomaterial type