GENETIC MONITORING OF CONGENITAL MALFORMATIONS, SPONTANEOUS MISCARRIAGE AND INFERTILE MARRIAGE

The article is a result of the research of cases with the reproductive loss in 44 families. Families was divided into two groups, depending on the etiological factors of congenital malformations, chromosomal aberrations cases in history of  31 families (who were found to be either parents carrier or chromosomal aberrations in a great number of congenital malformations of descendants) and unknown etiology in 13 cases. Part of them is a multifactorial pathology determined as a result set of detailed examination of the factors of teratogenesis or mutagenesis in the families. A cytogenetic examination shows abnormal karyotype in 15 families. Before planning the next pregnancy preconception prevention that included examination of the marriage couple for the extragenital pathology, rehabilitation of chronic foci of infection, screening for TORCH-complex and treatment if it is necessary was held. Also, all families received multivitamines with trace elements and folic acid at a dose greater than the required daily dose of 2-4 mg for 70 days to planning and the first trimester of pregnancy. In first group in 20 cases (64%)  phenotypic healthy children were born, 4 of them was found to have balanced chromosomal translocation, 1 of them had the clinical manifestations of epilepsy with early neonatal period. In 2 cases (6%) there were spontaneous abortions occurring in the first and second trimesters, in 5 cases (16%), multiple congenital malformations and medical abortion were found. In the second group after held following the for conducted preconception prevention and according to indications of prenatal diagnosis healthy children were born in 10 cases (76%).