Genetic And Epigenetic Aspects of The Development of Congenital Surgical Pathologies in Newborns

Congenital surgical pathologies in newborns represent a serious medical problem, affecting both the quality of life of patients and the effectiveness of medical intervention. This paper investigates the genetic and epigenetic aspects of the formation of these pathologies in order to identify key The study analyzed mutations in genes responsible for morphogenesis and embryonic development (PAX6, SHH, FGF8), and investigated the influence of epigenetic factors such as DNA methylation and histone modifications. Bioinformatics analysis of genetic data, epigenetic profiling and clinical observations were used. The results show that the combination of inherited mutations and unfavorable epigenetic changes caused by environmental factors plays a key role in the development of congenital pathologies. This opens new perspectives for early diagnosis and targeted prevention methods.

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Publication Details

Journal
Journal of Neonatal Surgery
Published
2025-03-20
DOI
https://doi.org/10.52783/jns.v14.2367
Primary Topic
Congenital Anomalies and Fetal Surgery
Type
article
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article

Genetic And Epigenetic Aspects of The Development of Congenital Surgical Pathologies in Newborns

E.V. Petrenko, А. В. Короткова, А. Р. Волкова, V. A. Markov et al.
Journal of Neonatal Surgery
Congenital Anomalies and Fetal Surgery
article

Genetic And Epigenetic Aspects of The Development of Congenital Surgical Pathologies in Newborns

E.V. Petrenko, А. В. Короткова, А. Р. Волкова, V. A. Markov, Alexander Markov, Anna Alexandrovna Ustimenko, Zinaida Murmanovna Kokhreidze
article en

Abstract

Congenital surgical pathologies in newborns represent a serious medical problem, affecting both the quality of life of patients and the effectiveness of medical intervention. This paper investigates the genetic and epigenetic aspects of the formation of these pathologies in order to identify key The study analyzed mutations in genes responsible for morphogenesis and embryonic development (PAX6, SHH, FGF8), and investigated the influence of epigenetic factors such as DNA methylation and histone modifications. Bioinformatics analysis of genetic data, epigenetic profiling and clinical observations were used. The results show that the combination of inherited mutations and unfavorable epigenetic changes caused by environmental factors plays a key role in the development of congenital pathologies. This opens new perspectives for early diagnosis and targeted prevention methods.

Journal of Neonatal SurgeryVol. 14(7S)
Openalex Percentile: Top 88%
Congenital Anomalies and Fetal Surgery
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Genetic And Epigenetic Aspects of The Development of Congenital Surgical Pathologies in Newborns — E.V. Petrenko, А. В. Короткова, et al. · Journal of Neonatal Surgery (2025) | TGRS Research Map | TGRS