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Information × Registration Number 0218U006197, 0115U000655 , R & D reports Title The epidiological characteristic of the main nosologies registered in the system of genetic monitoring popup.stage_title Head Omelchenko Elina, Registration Date 28-03-2018 Organization Ukrainian scientific centre of hygiene popup.description2 The object of the study is the registers of cases of birth defects. The subject of research - cases of congenital and hereditary pathology in newborns, spontaneous abortion among the outcomes of registered pregnancies, cases of infertility. Objective: To establish the burden of congenital birth defects (CBD) with different types of inheritance in conditions of changed environment for the improvement of the prevention of congenital pathology. Methods of research - epidemiological, statistical. The results obtained. The highest contribution to the incidence rate of newborns with congenital pathology is due to malformations in the development of the circulatory system (5.46 ‰), defects in development and deformation of the bone and muscular system (5.34 ‰). The innate defects in the development of the respiratory organs (0.19 ‰) are found to be the least likely. The structure of congenital pathology in the hospital register of patients with the newly diagnosed neonatal period for the first time in the period 2010-2016 indicates the prevalence of CBD from the group "Other CBD " (30.85±1.50%), CBD of the bone and muscular system - (26.97±1.44%), chromosomal anomalies - (14.48±1.14%). The average age of diagnosis in patients with classes of diseases is evidence of a lack of efficacy of the phenylketonuria (PhKU) screening system and hypothyroidism. Thus, in some cases, the diagnosis of PhKU was established in 28 years (mean value 10,58±1,71), hypothyroidism - 34 (on average - 12,84±3,27). Thus, the syndromal diagnoses are established in 14,69 ± 0,58, the diagnosis of the BVD of the eye, the ears, the face (11,54±2,02), congenital malformations of the circulatory system development (10,79±1,11), and the cleft palate of the lips and palate (10.67 ± 2.96).The main risk factors for birth defects, spontaneous abortion during the first trimester of pregnancy and infertility remain permanent residence on the radioactively contaminated area, contact with occupational diseases, harmful habits, chronic extragenital and infectious diseases and endocrine disorders of the spouses. The segregation component among cases of reproductive failure (congenital malformation, spontaneous abortion, infertility) varies on average by about 3%. At the same time, the segregation cargo in the control register was 0.53%.The registration and database layout card was introduced during the creation of a hospital based on the National Children's Hospital "OKHMATDIT" and regional ones based on the Zhytomyr Regional Perinatal Center and the Kyiv Regional Mother and Child Health Care Center. The Kyiv regional regional registry of congenital pathology, discovered outside the period of newborn birth, was initiated. Product Description popup.authors Качко Галина Олександрівна Качко Галина Олександрівна Линчак Оксана Василівна Педан Людмила Ростиславівна Полька Олена Олександрівна popup.nrat_date 2020-04-02 Close