Description
Non-invasive prenatal DNA test (NIPT) is a screening study aimed at identifying fetal chromosomal anomalies, performed by analyzing cell-free fetal DNA in maternal blood. NIPT is a screening method for assessing the risk of the most common fetal chromosomal anomalies: trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). The test examines embryonic-placental extracellular DNA isolated from maternal plasma. It assesses the risk of a genetic disorder in the child. The study allows for the suspicion of certain disorders and syndromes, and by knowing about them, providing timely treatment for the child after birth. However, it should be noted that this is a screening test; therefore, a diagnosis cannot be established 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 only a statistical probabilistic figure. The test is performed from the 10th week of pregnancy in the absence of ultrasound signs of chromosomal pathology. The gestational age must be established based on ultrasound data. 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 for many congenital pathologies. Detection of an increased risk of developmental defects in the child is not a diagnosis. False-positive results are possible. Method limitations: - aneuploidy in other autosomes (chromosomes) is not determined; - chromosomal anomalies or chromosomal mosaicism in the mother; - gestational age of less than 10 weeks at the time of blood collection for the study; - a singleton pregnancy that began as a twin pregnancy ("vanishing twin"); blood transfusion within the last 3 months; - organ or bone marrow, 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 may lead to false results.
Period of execution
Within 15 days
Biomaterial type