Molecular Genetic Markers of the Endothelial System in Predicting the Risk of Congenital Fetal Anomalies

Abstract

Objective. To investigate the distribution of genotypes of the PAI1 (5G/4G) and FGB G(−455)A polymorphisms in pregnant women with fetal anomalies and in a control group, and to assess their potential association with fetal abnormalities.
Materials and Methods. The study included 54 pregnant women with fetal anomalies (study group) and 40 women with uncomplicated pregnancies and no identified fetal anomalies (control group). Genotype distributions were compared using allele and genotype frequencies, odds ratios (ORs), confidence intervals and the chi-square (χ²) test.
Results. The frequency of the PAI1 5G/5G genotype was 14.8% in the study group and 95.0% in the control group, whereas the 5G/4G genotype was observed in 75.9% and 5.0% of participants, respectively. The 4G/4G genotype was detected in 9.3% of the study group and was absent in the controls. For the FGB G(−455)A polymorphism, the G/G genotype frequencies were 35.2% and 92.5% in the study and control groups, respectively. The G/A genotype occurred in 42.6% and 7.5% of participants, while the A/A genotype was identified in 22.2% of the study group and was not detected in the controls. Neurological abnormalities of the brain were also more frequently observed among carriers of the investigated heterozygous genotypes.
Conclusion. The observed differences suggest a potential association between the PAI1 (5G/4G) and FGB G(−455)A polymorphisms and the presence of fetal anomalies in the population studied. Further research involving larger cohorts and independent validation is necessary to determine the clinical and prognostic significance of these genetic variants.