Veropetvelyan M. Research studies of the role of genetic factors in the etiology and pathogenesis of reproductive disorders at different stages of prenatal development.

Thesis work considers the studies of genetically determined causes of reproductive loss in different periods of pregnancy. There have been analyzed the results of clinical and genealogical, cytogenetic, molecular and genetic, immunological, and prenatal examinations: 1,910 missed miscarriages, 1572 induced abortions, 1781 couples, and 180,584 pregnant women. There have been determined incidence and spectrum of chromosomal abnormalities in missed miscarriages of the 1st trimester, induced abortion and prenatally karyotyped fetuses; rating of developmental anomalies and echo markers in cases of various chromosomal abnormalities with further assessment of their diagnostic significance. There have been analyzed the distribution of chromosomal abnormalities at pre-embryonic and embryonic stages, seasonal variations in conceptions ended in a reproductive loss. There have been found the association of the MTHFR 677TT allele with the increased risk of anembrionia in aneuploid pregnancy, the G455A FGB mutation with the risk of placental abruption, antenatal fetal death and stillbirth. There have been featured the alleles matches of histocompatibility complex in couples based on the karyotype of earlier miscarried pregnancies. There have been presented the ways to improve the efficiency of genetic diagnostics in disorders of the reproductive function.