COMPARATIVE ANALYSIS OF THE CLINICAL PICTURE OF CHILDREN BORN WITH DOWN SYNDROME

The article provides a retrospective analysis of the data from the register of congenital and hereditary pathology of the Medical Genetic Center of the Sakha Republic (Yakutia) and medical records of inpatients with Down Syndrome located in the Department of Pathology of Newborns and Premature Children No. 1 and No. 2 of the Perinatal Center of the SAO of SR(Ya) “Republic’s Hospital No. 1 - National Center of Medicine” for ten years. Clinical features of the neonatal course of children with Down Syndrome before and after the introduction of prenatal diagnosis were studied. Prenatal diagnosis is an effective method of early diagnosis and prevention of Down Syndrome. The frequency of detecting Down Syndrome in SR(Ya) during the study period corresponds to the literature data. With the introduction of prenatal diagnosis, the incidence of Down Syndrome has increased, the percentage of termination of pregnancy for Down Syndrome has increased, the number of children born with this pathology has decreased, the birth of children with severe translocation has not been observed, and the critical CHD has decreased. The age of parents with children with Down Syndrome has significantly changed, with the number of parents over the age of 30 and 40 years increasing. In recent years, most pregnant women with children with Down Syndrome have been registered after a missed early screening period for chromosomal pathology. There are parents who refused to abort pregnancy after learning the diagnosis through the invasive method. Combined screening (ultrasound and biochemical markers) with a gestation period of 11 to 14 weeks is a sensitive method for the diagnosis of Down Syndrome. In connection with the change in the attitude of the society to children diagnosed with Down Syndrome, the number of children left without parental care has decreased, the percentage of discharged home has increased. To improve prenatal diagnosis in the SR (Ya) further, it is necessary to increase the coverage of pregnant women by screening, to improve the quality of combined screening, to develop regional fetometric standards.

Down Syndrome, prenatal diagnosis, frequency, congenital heart diseases

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