Abstract
The number of newborns who already have various malformations at birth is, according to WHO data, 2.5- 3%. Almost 1% of them are manifestations of monogenic diseases, about 0.5 % - chromosomal diseases, 1.5-2 % are caused by congenital malformations (СМ) caused by the influence of adverse factors of exogenous and endogenous origin. The frequency of СМ increases by the end of the first year of a child's life and reaches 5-7 % due to the manifestations of undiagnosed malformations of vision, hearing, nervous and endocrine systems at birth. The estimate of the incidence of congenital spinal abnormalities in the general population is 0.13-0.5 / 1000 newborns. About 10-12 % of children have scoliosis. In some children, this pathology is congenital and refers to complex neonatal pathologies of spinal malformations.The relevance and priority of issues of prevention and early treatment of congenital scoliosis are due to the development of severe deformities, disorders in the internal organs, as well as cosmetic defects.The article describes a clinical case of congenital scoliosis in a prematurely born child with another congenital pathology specific to the perinatal period, which was detected and confirmed before the end of the first week of the child's life: respiratory distress syndrome of the newborn, intraventricular hemorrhage grade III, signs of periventricular leukomalacia with discrete hemorrhages in the spinal cord, dimorphic syndrome, anemia of premature babies, metabolic disorders (hyperkalemia), prematurity is 28 weeks.The description of this clinical case raised topical questions that inevitably arose from a team of doctors who were involved in the medical care of a child with extremely low birth weight. The components of primary, secondary, and tertiary prevention of the development of hereditary pathology are identified, both at the stage of pregnancy planning and in the prenatal period. The defining role in the complex of measures for the Prevention of congenital and hereditary diseases today belongs to prenatal diagnostics, which makes it possible to prevent the birth of children with severe uncontrolled malformations, socially significant fatal genes, and chromosomal diseases. When providing medical care to children with severe congenital, combined pathology, it is important to discuss the issue of providing palliative care to children.An integral part of making therapeutic decisions about the type and method of medical care for a child is to consider the will of the parents, provided that the opinion of the parents is conscious and based on the comprehensive information received about all possible actions of medical professionals, indicating not only conducive but also adverse consequences in the long term of the life of the sick newborn.
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