THE IMPACT OF GENETIC FACTORS ON EMBRYONIC DEVELOPMENT: MECHANISMS AND CLINICAL IMPLICATIONS
Abstract
This systematic review examines the critical role of genetic factors in embryonic development and their contribution to congenital anomalies. We analyze how chromosomal abnormalities (e.g., trisomy 21), single-gene mutations (GATA4, NKX2-5, TBX5), and epigenetic modifications disrupt normal embryogenesis, particularly in cardiac and neurological development. Our synthesis of 87 studies reveals that approximately 20-30% of congenital anomalies stem from identifiable genetic mutations, with another 10-15% resulting from gene-environment interactions. We highlight advances in prenatal genetic diagnostics (NGS, CRISPR-Cas9) and emphasize the importance of preconception genetic counseling. The findings underscore the need for expanded genetic screening programs and targeted public health interventions to reduce the incidence of genetically-based congenital disorders.
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