Population Genetic Analysis of Allele Frequencies for Hereditary Thrombophilia in Pregnant Women Using Artificial Intelligence

Abstract

Thrombophilia is an inherited condition characterized by an increased tendency for blood clot formation, affecting approximately 8-11% of the European population. It is typically inherited in an autosomal dominant manner and includes approximately 10 different subtypes, classified based on genetic factors. This condition often leads to complications in pregnant women, including spontaneous miscarriage, fetal deformities, and an increased risk of heart attack, stroke, pulmonary embolism, and deep vein thrombosis. The goal of this study was to conduct a detailed genetic analysis of thrombophilia using population genetics methods (Hardy–Weinberg equilibrium, Shannon index, genotype frequencies) and to develop an AI-based predictive model for high-risk genotypes, evaluated via confusion matrices. The research focused on assessing allele frequencies, genetic diversity, and deviations from Hardy-Weinberg equilibrium in a cohort of 2,760 pregnant women to enhance the understanding of the genetic basis of this condition. Our analysis revealed significant correlations between coagulation factor genes and identified distinctive patterns of genetic diversity across 12 thrombophilia-associated markers. The results provide key insights into genetic variations and their potential implications for pregnancy complications. This study opens new perspectives for improving early detection and more effective risk management of thrombophilia during pregnancy.