Object of the study: hereditary skeletal diseases (HSD). Purpose of the study: to reveal the character and term of the manifestation of morphogenetic changes in the foetus in HSD for working out prenatal criteria in the early diagnosis and prospective prognostication. Methods of the study: clinical-genetic, ultrasonographic, radio-logical, cytogenetic, statistical (parametrical and nonparametrical). Practical significance: the study of abilities of the prenatal ultra-sonographic examination of HSD, morphogenetic changes in them was caused by a necessity to look for diagnostic criteria at different stages of the ontogenesis and, first of all, the prenatal one. The re-vealing of the rate of the studied pathology and its genetic variants gives a possibility to make a diagnosis as soon as the first signs ap-pear. The obtained results can be effectively used in medical-genetic consulting and revealing groups of a high genetic risk of HSD. The elaborated prenatal “echographic portraits” of patients with different HSD can be a peculiar matrix for specialists in ultra-sonography. The devised diagnostic tactics for the formation of family groups of a high risk of HSD of the foetus at the stage be-fore the execution of the prenatal ultrasonography contributes to an early diagnosis and adequate management of the pregnancy, pro-ceeding from a systemic skeletal disorder in combination with mul-tiorgan pathology. The drawn diagnostic tables for recognizing families of a high genetic risk of HSD by anamnestic data are available for being used by doctors of different specialities, they are of great importance for confirming the informative significance of the genealogy. The marker signs, revealed for the first time, make it possible to diagnose the pathology before its complete manifestation in “the golden period of ultrasonography”, as well as ensure an adequate management of the pregnancy and rehabilita-tion, rather than only to prevent euthanasia. Novelty of the obtained results: for the first time, the author exe-cuted a genetic approach to the search for hereditary skeletal disor-ders, their morphogenetic characteristics within the prenatal period of the ontogenesis, taking into account their genetic heterogeneity and clinical polymorphism. The pathology rate in families with an aggravated genetic anamnesis was reliably assessed, unique data on the ratio of HSD in families with a high genetic risk were obtained. The ratio of HSD in prenatally diagnosed congenital developmen-tal defects (CDD) was studied. For the first time, a diagnostic tac-tics was substantiated and worked out, a diagnostic algorithm was developed to look for families with a high risk of HSD for the foe-tus at the stage of the medical-genetic consulting (before the prena-tal ultrasonography). Diagnostic tables were created as matrices for recognizing families with a high risk of HSD for the foetus. Risk factors of HSD in the foetus were revealed: “leading” (a skeletal pathology in the parents, a skeletal pathology in the elatives); “ma-jor” (a pathologyof the organs of hearing in the relatives, dysplasia of the connective tissue in the parents, in the relatives, an aggra-vated obstetrical anamnesis in the relatives); “minor” (a pathology of the endocrine system in the realtives. Chronic infections of the reproductive organs and urinary tract, an unfavourable course of the first trimester of pregnancy, an aggravated obstetrical anamne-sis in the family); “additional” (an unfavourable course of the2nd-3rd trimester of pregnancy, oncological diseases in the realtives, a renal pathology in the parents). The revealed marker signs of a dis-turbance in the morphogenesis made it possible, with help of ultra-sonography, to prenatally recognize HSD before their complete manifestation, it serving as a basis for making prenatal dispensary examination in vital forms and interruption of pregnancy in lethal cases. It was found out that the parents of a proband with syn-dromic HSD had a high probability of monogenic syndromes with an incomplete expression of the pathological gene and the effect of anticipation. The use of the ultrasonographic marker signs of HSD made it possible to differentiate lethal variants (48.4 %), this fact emphasizing a high informativeness of the ultrasonographic method. For the first time, the specific ratio of the primary systemic skeletal dysplasiae (56.3 %), multiple CDD accompanied by a skeletal pathology of the chromosomal etiology (12.5 %), multiple CDD accompanied by a skeletal pathology of the nonchromosomal etiology (18.7 %), isolated lesions of certain bones (12.5 %), thereby confirming an ability of the ultrasonographic examination to register a genetic variety of CCD. Introduction: results of the research are used n the work of the Kharkiv Specialized Medical-Genentic Centre, Kriviy Rig Centre of Medical Genetics and Prenatal Diagnosis, the Department of Childhood Psychoneurology and Clinical Neurogenetics of the Institute of Neurology, Psychiatry and Narcology of the Academy of Medical Sciences of Ukraine, the Departments of Paediatricsand Clinical Genetics, Medical Biology, Genetics and Histology of Bukovina State Medical University, State Enterprise “Research Institute of Medical-Ecological Problems” of the Ministry of Health of Ukraine, as it is confirmed by the corresponding acts on introduction. Sphere of application: medicine, genetics.
