Karyotyping of 366 couples (732 individuals) with early recurrent pregnancy losses in anamnesis revealed chromosomal anomalies in 4.09% (30 cases)-within them 2.05% carry reciprocal translocations, in 0.82%-Robertsonian translocations, 0.55% carry numerical and structural gonosomal anomalies and in 0.27%-marker chromosome of unknown origin. The risk of early reproductive losses in women after exclud ing the cytogenetic component increases three fold if SNPs 1082GG, 592CC, 819CC of IL 10 gene and IFN γ + 874AT or 874AA genotypes are present. ELISA-mediated detection of serum IL 10 and IFN γ showed a possibly significant increase of IFN γ in women with the history of early reproductive losses when compared to reproductively healthy women. We are proposing a complex cyto-and immunogenetic investi gation in cases of early reproductive losses in women. One of the important issues of reproduction are the immunological mechanisms of pregnancy maintenance, where the disbalance in the genetically determined Th1-and Th2-cytokine levels may be one of the causes of early fetus elimination.

Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women.. Materials and methods. The analysis of the results of medical genetic counseling of pregnant women with fetal heart diseases was carried out. The effectiveness of using different methods of prenatal diagnosis in 67 pregnant women is estimated. The data of somatic, genealogical and reproductive anamnesis, biochemical markers of chromosomal pathology of the 1st and 2nd trimester of pregnancy, and the spectrum of the detected fetal heart disease were studied. Results of the research. It was found that 46 (68.7 %) women had somatic diseases: pathology of the cardiovascular system (11.9 %); endocrine system - at 8 (11,9 %); respiratory disease – 3 (4.5 %) and urinary system – 2 (3.0 %). 13 (19.4 %) out of 67 women had acute respiratory viral infections in the first trimester of pregnancy. In 4 (6 %) cases - bad habits. The first time pregnant were 31 (46.3 %) women, 21 (31.3 %) – the second time, 10 (14.9 %) in the third, and 5 (7.5 %) in the fourth or more times. In history, 58 (86.6 %) women did not have reproductive function disorders, 8 (11.9 %) had unauthorized miscarriages and frozen pregnancy. The burden of gynecological anamnesis was observed in 12 (17.9 %) women, and hereditary - in 6 (9.0 %) women. In the structure of congenital defects of the heart, false anatomical anomalies were found more often: hypoplasia of the left heart organs – 14 (20.9 %), tetralogy of Fallot - 9 (13.3 %). Biochemical markers of chromosomal pathology in the first trimester in 11 (16.4 %) women recorded indicators that are characteristic of the risk of chromosomal pathology, and in the second trimester – in 9 (13.4 %). Two pregnant women used a NIPT (non-invasive prenatal test) test that did not detect chromosomal abnormalities in the fetus. In 8 cases, invasive prenatal diagnosis of the fetus was recommended, which was carried out by three women, and five refused. Conclusions. The peculiarities of somatic (in 46–68.7 % of women), reproductive (in 8-11.9 % of women) gynecological anamnesis (in 12–17.9 % of women), which can be the risk factors of congenital fetal heart disease, are revealed. In the structure of congenital defects of the heart of the fetus more often revealed hypoplasia of the left heart organs – 14 (20.9 %), tetralogy of Fallot – 9 (13.3 %). In 11 (16.4 %) women recorded indicators of biochemical markers, characteristic for the risk of chromosomal pathology, in the first trimester, and – in 9 (13.4 %) pregnant women – in the second trimester. Comparative data on prenatal diagnosis of congenital heart defects in the fetus of chromosomal, monogenic and multifactorial etiology are given. On the basis of the obtained results an algorithm of medical-genetic counseling of this contingent of patients was offered.

Aim. Analyze the distribution of allelic polymorphism of HLA-DRB1, DQA1, DQB1 genes and HLA-G 14-bp insertion/deletion polymorphism in women with RPL. Methods. DNA extraction, PCR, agarose gel electrophoresis. Results. A comprehensive analysis of the distribution and frequency of allelic variants of genes HLA-DRB1, HLA- DQA1, HLA-DQB1 and HLA-G 14 bp insertion/deletion polymorphism among women with RPL. Conclusions. Сhanges in the major hystocompatibility complex genes can cause the failure of a woman’s reproductive function and lead to an early fetal loss

Aim. Human reproduction characterized by a high incidence of aneuploidies. Approximately 99 % of conceptions with anomalies of karyotype terminate of pregnancy loss, mainly during the first 14 weeks of intrauterine development. The frequency and spectrum of karyotype anomalies in the chorionic villus of early reproductive losses were studied depending of maternal age. Methods. Banding cytogenetic and interphase mFISH with the centromeric probe panel for chromosomes 13, 14, 15, 16, 17, 18, 21, 22, X and Y were used. Results. The contribution of different karyotype abnormalities in the genesis of the early reproductive losses depends on the age of the woman, namely, with age significantly increases the proportion of aneuploidy due to autosomal trisomies and reduced contribution of polyploidy and gonosomal monosomy. The main autosomal trisomy in the material of lost pregnancies from women under the age of 35 is 16, 21 and 15, 22, 13 and 18 in order of decreasing frequency, and from older women 16, 15, 22, 21, 13 and 14. Conclusions. The structure and rate of karyotype anomalies in the material of lost pregnancies varies with maternal age. Keywords: early reproductive loss, maternal age, karyotype abnormalities.

Aim. There is growing evidence that recurrent pregnancy losses (RPL) are associated with the presence of inherited thrombophilias but data are inconsistent. The present study aimed to assess the distribution of inherited risk factors of thrombophilia among women with RPL. Methods. We studied 68 women with RPL and 120 healthy women of control group, inhabitants of Western Ukraine. In all subjects the detection of genetic factors of thrombophilia were determined by polymerase chain reaction and restriction fragment length polymorphism method. Results. The prevalence of heterozygotes for FV 1691G/A among women with RPL and controls were: 12 % versus 4 %, respectively. Women heterozygosity for factor V Leiden was significantly more prevalent in the RPL group than in controls (OR 3.11, 95 % CI 1.02–9.46). Results showed that carriers of PAI-1 4G allele have increased odds on more than 2 times in comparison to the carriers of homozygous 5G5G genotypes. A significant relationship between allele variation 677T of MTHFR gene (OR 1.70, 95 % CI 1.09–2.67) and RPL was observed. Conclusions. Significance of 1691G/A mutation of V blood coagulation factor gene, alleles variations of 677T of MTHFR gene and 4G of PA1-1 gene in the structure of predisposition to RPL in group of west Ukrainian women was established. Keywords: genetic factors, hereditary thrombophilia, molecular genetic testing, RPL.