Noninvasive prenatal testing in megacity

Introduction. The article presents an analysis of the use of non-invasive prenatal testing for chromosomal abnormalities in the fetal extracellular DNA in the blood of pregnant women in Moscow. Materials and methods. When processing materials and research results, authors considered all available clinical data: findings of an ultrasound examination, medical history and results of additional laboratory tests. Results. The article presents results of invasive prenatal diagnostics and pregnancy outcomes in patients with high NIPT risks. Discussion. Authors analyzed diagnostic capabilities of NIPT, its limitations, false-positive and false-negative results, and described 3 cases of prenatal diagnosis of fetal aneuploidy identified in patients who are in the «gray zone» of risk based on the results of combined screening of the first trimester of pregnancy. Conclusion. Prenatal diagnosis of the described aneuploidy is difficult due to individual risk of developing chromosomal abnormalities of the fetus based on the results of combined first-trimester screening in the range of 1:101‒1: 2500 and lack of indications for invasive prenatal diagnostics.