Неинвазивное пренатальное тестирование (НИПТ)(базовый)

The NIPT basic panel (aneuploidies of chromosomes 13, 18, and 21) analyzes cell-free DNA in maternal blood to estimate the probability of fetal trisomy 13, trisomy 18, and trisomy 21. Testing is feasible from the 10th week of gestation, when sufficient fetal (placental) DNA circulates in maternal plasma. This assay functions as a screening tool rather than a diagnostic test; reported risk pertains only to chromosomes 13, 18, and 21. Genetic counseling is recommended for interpretation of results and next steps, especially when ultrasound abnormalities of the fetus, placenta, or umbilical cord are present, as such findings can render screening noninformative.

By approximately 10 weeks of gestation, a sufficient amount of fetal (placental) cell-free DNA is present in maternal circulation to enable noninvasive prenatal DNA screening. NIPT estimates risk specifically for aneuploidy involving chromosomes 13, 18, and 21 and does not evaluate other chromosomal disorders. A high-risk result does not establish a diagnosis, and a low-risk result does not eliminate all potential abnormalities related to these chromosomes. NIPT cannot identify every genetic or nongenetic condition that may affect the pregnancy. The assay does not exclude microdeletions or microduplications of small chromosomal segments on chromosomes 13, 18, or 21. When ultrasound shows abnormalities of the fetus, placenta, or umbilical cord, the screen may be uninformative; such imaging findings may reflect other chromosomal conditions, monogenic disorders, or non-genetic causes. Genetic counseling is advised for results review and clinical decision-making.