The object of the study: families of reproductive age from the Kharkiv subpopulation. Purpose: to determine the role of congenital and hereditary pathology in reproductive boss in the family to create a new concept of primary and secondary prophylaxis. Methods: somatogenetic study with syndrome analysis, clinical geneological analysis, prenatal ultrasound somatogenetic study of the fetus with syndrome analysis; invasive methods of prenatal examination: Doppler ultrasound, cytogenetic, molecular-cytogenetic, immune, immunoenzyme methods, DNA cytometry, Pico-Tad technique, HLA typing of mononuclear blood cells, pathological study of the fetuses and afterbirths. A high percentage of congenital and hereditary pathology among the causes of reproductive loss was established. The necessity to introduce genetic monitoring for an adequate assessment of the rate of genetic load was proved. A new concept of primary and secondary prophylaxis of congenital and hereditary pathology was developed. A new system of rev erse screening "proband - parents" was worked out. A new system for verification of the diagnosis of congenital and hereditary pathology was suggested. The study was performed within the program "Protection of genetic fund of Ukrainian population" (1.01.01/041-92, 1992-1995), "Complex program of genetic monitoring, 1999-2003" approved by the President's Decree #118/99 dated 04.02.99 and Interregional Program "Prevention and genetic monitoring of congenital and hereditary pathology". The main theses of the work were included into the National Program "Children of Ukraine", approved by the President's Decree #63/96 dated 18.01.95. Field of application: medical genetics, perinatology, pediatrics, neurology, therapy, orthopedics and traumatology.
