Grabar V. Clinical and genetic aspects of prenatal monitoring in families with impaired reproductive function

This thesis develops the algorithm of providing medico-genetic assistance to families with impaired reproductive function (IRF) and pregnancies after assisted reproduction technologies (ART). The most significant somatic diseases associated with certain types of IRF have been defined. The revealed effect of anticipation for hypertension and type 2 diabetes/glucose intolerance proves the role of genetic factors in the implementation of reproductive endocrine dysfunction genesis. The frequency of aneuploidy and chromosomal rearrangements in the karyotype of the couple with the known infertility genesis, at the idiopathic infertility/miscarriage as well as the aneuploidy frequency of embryos in ART programs at female and male infertility have been determined. The possibility of using the modified method of research of trophoblastic cells in cervical mucus of the mother in the 1st trimester of induced pregnancies has been shown. The frequency of congenital defects in pregnancies after assisted reproduction technologies (40,41 ‰) has been calculated, and its significant growth compared to the control population (25,03 ‰) has been proved. The increase in the frequency of miscarriages and premature births in ART pregnancies, regardless of the specific ART methods, has been shown, and the algorithm for early prediction of perinatal risk has been suggested. The peculiarities of changes in biochemical markers in induced pregnancies have been defined, and the expediency of changing of the standard protocol on serial two-stage prenatal screening - measuring levels of PAPP-A and free beta-hCG at 10-11 weeks followed by the ultrasound markers assessment and calculation of individual genetic risk at 12-13 weeks has been justified.