[A weak association of 677 C>T polymorphism in MTHFR with recurrent embryonic loss].

Early (embryonic) pregnancy loss before 10 week of gestation (wg) could also be related with endometrial receptivity as well as with gene expression regulation in developed embryo. Methylation of genome is a key process in the gene expression. Because the methylenetetrahydrofolate reductase (MTHFR) have had significant role in methionine metabolism polymorphisms into the gene could be related with early embryonic development. This study evaluated relationship between T allele in 677 C>T polymorphism in MTHFR and recurrent embryonic loss development. One hundred six women with tree or more pregnancy loss before 10 wg and 165 women without reproductive failure have been evaluated for 677 C>T carrier status. Sixteen (15.1%) of women with pregnancy loss have had TT genotype and 54 (50.9%) are heterozygous carriers for T allele. T allele frequency was higher but not significant differ from carrier status in control group (13.9% for TT genotype and 43.9% for CT OR and 95% CI respectively 1.1, 0.52-2.3 u 1.34, 0.8-2.26, p > 0.05). T allele (in homozygous and heterozygous carriers) was in higher but not significant prevalence in patients compared with controls (66% and 57.6% respectively, OR 1.43, 95% CI 0.84-2.46, p > 0.05), This study found a weak association between T allele carrier status (both in homozygous and heterozygous state) and recurrent embryonic loss development. T allele in 677 C>T polymorphism could be considered like an agent for early pregnancy wastage only in a constellation with other risk factors influencing embryonic development.

[Inherited thrombophilic factors in women with secondary infertility].

Because of the presence of additional confounding factors, such as cervical incompetence or uterine infections, the impact of inherited thrombophilia in women with second infertility has been hard to assess. The evaluation of the significance of the most common inherited thrombophilic factors - Factor V Leiden (FVL), prothrombin gene mutation 20210 G > A (FII), polymorphism (PL) 677 C > T in MTHFR, PL A1/A2 in platelet glycoprotein IIb/IIIa and PAL-1 PL 4G/5G in 35 women with two or more secondary (who have given birth to at least one child) recurrent pregnancy loss (RPL) before 14 weeks of gestation compared to 70 healthy women with no history of RPL and at least one uncomplicated full-term pregnancy, has been performed. Eight out of 35 women with secondary RPL (25.7%) and 6 out of 70 controls (8.6%) have had FVL or FII 20210 G > A (OR: 3.7, 95% CI: 1.05-13.2, p = 0.038). Five (14.3%) women with secondary infertility were carriers for FVL and four (11.4%) for FII 20210 G > A, corresponding to four (5.7%) and two (2.9%) of the women in the control group. The carrier status for MTHFR 677 C > T (TT genotype), PL A1/A2 and PL 4G/5G (4G/4G genotype) was as follows: 11.4%, 28% and 30.8% in patients and 14.3%, 17.1% and 24.3% in controls without significant difference between the groups. Despite of the presence of background factors, an appreciable role of inherited thrombophilia in secondary RPL was established, which enforces thrombophilia testing and management of women with second infertility as well as women with primary RPL.

[Platelet intregrin beta3 A1/A2 polymorphism in women with stillbirth].

Maternal thrombophilia was recently discussed as possible cause for pregnancy complication, although the roles of some coagulation factors have not been clarified. Carrier status for platelet integrin beta3 polymorphism A1/A2 (PL A1/A2) was considered as possible risk factor for pregnancy complication. Seventy women with one or more stillbirth (intrauterine fetal death after 20 week of gestation) and 100 healthy control subjects were evaluated for PL A1/A2 to assess the impact of polymorphism for late pregnancy loss. The prevalence for PL A1/A2 in women with stillbirth was higher but not significantly differs from carrier status in control subjects (respectively 28.3% and 17%, OR = 1.93; 95% CI: 0.84 - 4.45). After adjustment for carrier status for Factor V Leiden (FVL) and Prothrombin (FII) gene mutation 20210 G > A the prevalence of PL 1/A2 remains a similar (28.2% O R = 1.92; 95% Il: 0.78 - 4.75). Combined carriers status for PL A1/ A2 with FVL or III 20210 G > A have had significantly higher prevalence in investigated group comparing with control subjects (respectively 20% and 2%, p < 0.0001). An independent impact of PL A1/A2 on risk of stillbirth development is not be yet established but additive role of the polymorphism in combination with other thrombophilic factors should be considered.

[Combined thrombophilic factors among women with late recurrent spontaneous abortions].

The aim of this study was to assess the role of combined thrombophilic factors carrier status for development of late recurrent pregnancy loss (RPL). The polymorphism 4G/5G (PL 4G/5G) - genotype 4G/4G in plasminogen activator inhibitor type 1 (PAI-1), Factor V Leiden (FVL) and prothrombin (FII) gene mutation 20210 G>A in 52 women with recurrent pregnancy loss between 10 and 20 weeks of gestation and in 125 healthy women with at least one uncomplicated full-term pregnancy was investigated. Combined carrier status for thrombophilic factors was more pronounce among women with RPL (7.7%) compared to control subjects (3.2%), (OR=2.52, 95% CI (0.5- 12.62), p-ns). The most common association was between FVL and PL 4G/5G (5.8% compared to 0.8% in patients and controls, OR=7.59, 95% CI (0.68 - 191.04), p-ns). Because of relatively small size of the study, the difference in carrier status between women with RPL and control subjects did not rich statistical significance. A weak association between double carrier status for inherited thrombophilic factors and RPL was established. The strong determination in larger studies of the relation between combined inherited thrombophilic status and RPL development could better specify anticoagulant prophylaxis in further pregnancy