Description
Non-invasive prenatal DNA test (NIPT) is a screening study aimed at detecting fetal chromosomal abnormalities, 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 abnormalities: trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), and sex chromosome aneuploidies. Depending on the fetal sex, the report indicates the risk of monosomy X (Turner syndrome) and trisomy X (XXX syndrome) for a female infant; and disomy X (Klinefelter syndrome) and disomy Y (Jacobs syndrome) for a male infant. The test examines embryonic/placental extracellular DNA extracted 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 with that knowledge, the implementation of timely treatment for the born child. However, it should be noted that this is a screening test, meaning a diagnosis cannot be made based on its results. It estimates 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. The test is performed starting from the 10th week of pregnancy in the absence of ultrasound signs of chromosomal pathology. The gestational age must be established by ultrasound data. The prenatal genetic study assesses the risk of chromosomal abnormalities. 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 current 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. Testing for sex chromosome aneuploidies, as well as determination of the future child's sex, is possible for singleton pregnancies and at the patient's request. Limitations of the methodology: - aneuploidies for 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; - singleton pregnancy that began as a twin pregnancy ("vanishing twin"); - 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 oncological disease; - in pregnant women with obesity, the concentration of the fetal DNA fraction is reduced due to a larger blood volume, which can lead to false results.
Period of execution
Within 15 days
Biomaterial type