Preimplantation genetic diagnosis by blastocentesis: Problems and perspectives

The discovery of cell-free DNA in blastocoele fluid opens new perspectives for the development of preimplantation genetic diagnosis of human chromosomal and genetic diseases. In this review we analyzed the results of the first studies, which made it possible to evaluate the effectiveness of the application of a new source of biological material and showed a high degree of agreement between the results of molecular karyotyping with cell-free DNA and blastocyst cells. The results suggest the possibility of developing a noninvasive method of preimplantation genetic diagnosis, which may open a new round of progress in the field of assisted reproductive technologies and the genetics of early stages of human ontogenesis.     

A Nanoscale Modification of Materials at Thermoplasmonic Laser-Induced Backside Wet Etching of Sapphire

Plasmonics - Laser-induced backside wet etching using water solution of plasmon precursor (AgNO3) as an absorbing medium provides effective structuring of such a complex material as sapphire. At...     

Ontogenetic Pleiotropy of Genes Involved in CNVs in Human Spontaneous Abortions

Russian Journal of Genetics - Using chromosome microarray analysis, 52 samples of placental tissues from first trimester human spontaneous abortions were examined. One hundred twenty copy number...     

Skewed X-chromosome inactivation in human miscarriages

The sex ratio in the first trimester of pregnancy shifts toward males due to increased elimination of female embryos. One reason for this phenomenon may be disruption of X chromosome inactivation. In this paper, we have analyzed the nature of the X chromosome inactivation in extraembryonic tissues of induced and spontaneous abortuses with 46,XX karyotype. Both equiprobable and asymmetric inactivation have been found in chorionic cytotrophoblast from spontaneous and induced abortuses. In the extraembryonic mesoderm of the control group of embryos, only equiprobable inactivation has been found, whereas this parameter was shifted in 15% of spontaneous abortions. The highest incidence of the selective inactivation of one of the parent homologues was found in the group with a lack of development of embryos and embryos from women with recurrent miscarriages. One of the reasons for the observed results can be compartmentalization of cells in the blastocyst leading to the nonrandom redistribution of cells and the predominance in the inner mass of cells with an active X chromosome with aberrations incompatible with normal embryonic development.     

The characteristics of the cardiovascular reactions in modelling a state of orthostatic hypotension in waking hypertensive animals]

This study demonstrates the suppression of chronotropic component and activation of vascular component of baroreceptor reflex evoked by v.cava inferior occlusion in the conscious chronically instrumented cats with renal hypertension. Infusion of nitroprusside caused the depression of both components in the normotensive and hypertensive animals. The values of system hemodynamics indices permit considering that new model of orthostatic hypotension is worked out.