Association Between Thrombophilia Gene Polymorphisms and Recurrent Pregnancy Loss

Abstract

Spontaneous miscarriage is reported in approximately 15% of the clinically recognized pregnancies. Several reports have showed an increased risk of miscarriage in patients with thrombophilia, but due to the heterogeneity of study design the role thrombophilic factors and the use of anticoagulant therapy in prevention of pregnancy loss is still unclear. The current study includes 55 patients for which we ran a screening of the most commonly inherited thrombophilia mutations (FVL, FII, MTHFR C677T/A1298, PAI 4G/5G mutations). We found that most of the patients (92.72%) associated mutation in at least 2 of the genes evaluated. Only a small number of patients (7.27%) had a single variant identified. We have found high prevalence of the studied variants in the pregnant patients that experience pregnancy loss, with risk allele frequencies increased from 2 to 11 times as compared to the general population. We consider that evaluation of the trombophilic variants should be indicated for patients with pregnancy loss in order to establish a possible cause for the miscarriage.

The Genetic Profile of Thrombophilia in Reproductive Disorders

“…These polymorphisms are associated with a mild thrombotic risk in association with recurrent pregnancy loss [23]. Dragos Erdelean et al (2018) [24] study showed that the MTHFR C677T variant was found in heterozygosity in 56.4% of the patients, while 16.4% of the cases had the homozygote polymorphism genotype; 4G/ 5G genotype for PAI-1 gene was 76.4% and 4G/4G was 21.8%; while FVL polymorphism was present only in heterozygote state, 14.5% of the patients. Compared with the results of this study, conducted also on patients in Romania, observations were similar for MTHFR C677T gene polymorphism frequency, but for PAI-1 gene polymorphism, we have noted a lower frequency of heterozygous status (only 56.1%) and a slightly higher 4G/4G genotype (respectively 28.1%).…”