The role of gene polymorphism in the development of critical conditions of newborns of different etiology (literature review)
DOI:
https://doi.org/10.15574/SP.2025.1(145).8587Keywords:
newborn, neonatal mortality, diagnostics, genetic markersAbstract
In recent years, a key achievement of medical science in diagnostic and prognostic aspects has been the study of molecular-genetic mechanisms involved in developing critical conditions and various diseases in children, especially newborns.
The aim of the study was to evaluate modern concepts about the role of gene polymorphism in the development of critical conditions of newborns of various etiologies, as well as issues of early prediction of these pathological conditions.
This article presents a literature review addressing key issues related to the determination of a significant relationship between gene polymorphism and neonatal pathologies. The study of gene polymorphisms affecting the development of various diseases is currently considered relevant due to the lack of scientific research in this area among the pediatric population. Special attention is given to studies conducted using the Genome-Wide Association Studies (GWAS) method to identify gene loci associated with various pathological conditions occurring in the neonatal period. Understanding the genetic factors influencing fetal development is critical for comprehending diseases’ complexities and severities. Summarizing the theories and hypotheses presented in the article, it can be concluded that studying gene polymorphism and applying an individualized approach to diagnosing neonatal diseases is of great importance.
Conclusions. According to modern concepts presented in the literature, it should be emphasized that the need for early genetic testing of newborns, especially those with risk factors for perinatal asphyxia, can play a decisive role in the timely detection of severe conditions. Various genetic loci and gene mutations contribute to the detailing of clinical manifestations of diseases and risk factors, indicating the importance of identifying gene polymorphisms.
The authors declare no conflict of interest.
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