The occurence of genetic trombophilic markers in patients evaluated for infertility
Authors:
R. Filipčíková 1; J. Březinová 1,2; I. Oborná 3,4; Z. Blažková 1; V. Krčová 5; L. Slavík 5; J. Úlehlová 5; A. Hluší 5; M. Bezdičková 1
Authors place of work:
Ústav normální anatomie FN a LF UP, Olomouc, přednosta doc. MUDr. S. Laichman, CSc.
1; Arleta, Centrum reprodukčního zdraví s. r. o., Kostelec nad Orlicí, vedoucí lékař MUDr. J. Doležal
2; Porodnicko-gynekologická klinika FN a LF UP, Olomouc, přednosta prof. MUDr. R. Pilka, Ph. D.
3; Fertimed s. r. o., Olomouc, vedoucí lékař doc. MUDr. A. Sobek, CSc.
4; Hemato-onkologická klinika FN a LF UP, Olomouc, přednosta prof. MUDr. K. Indrák, DrSc.
5
Published in the journal:
Ceska Gynekol 2013; 78(1): 73-77
Summary
Objective:
To assess and compare the frequency of selected gene mutations of thrombophilic markers (FV Leiden, FII prothrombin G20210A and MTHFR C677T) in patients with primary and secondary infertility.
Design:
Retrospective study.
Setting:
Institute of normal anatomy, Faculty of Medicine and Dentistry, Palacky University Olomouc.
Methods:
The study included 92 patients with primary infertility and 89 patients with secondary infertility. Indications for examination of these mutations were following: a positive family or personal history, a positive obstetrical history or a repeated failure of assisted reproduction treatment.
Results:
According to our anticipation, women with the secondary infertility were significantly older(p < 0.0005) than those with primary infertility. No mutations of genes of examined thrombophilic markers (FV, FII and MTHFR), either alone or in combination, were found in only 8.7 % patients with primary infertility and in 5.6 % patients with secondary infertility. Significantly higher frequency of factor Leiden(p < 0.02) was observed in women with secondary infertility. There were no significant differences in the frequency of detected mutations of the remaining factors.
Conclusion:
Based on our findings we suggest that the assessment of selected gene mutations of thrombophilic markers should be a part of the diagnostic algorithm in patients with positive history for thrombophilic disorders.
Keywords:
inherited thrombophilia – female infertility – IVF and ET
Zdroje
1. Azem, F., Many, A., Yovel, I., et al. Increased rates of trombophilia in women with repeated IVF failures. Hum Reprod, 2004, 19, p. 368–370.
2. Bohlmann, MK. Effects and effectiveness of heparin in assisted reproduction. J Reprod Immunol, 2011, 90, p. 82–90.
3. Coulam, CB., Jeyendran, RS., Fischel, LA., et al. Multiple thrombophilic gene mutations are risk factors for implantation failure. Reprod Biomed Online, 2006, 12, p. 322–327.
4. D‘Elia, AV., Fabbro, D., Driul, L., et al. Plasminogen activator inhibitor-1 gene polymorphisms in pre-eclampsia. Semin Thromb Hemost, 2011, 37, p. 97–105.
5. Dulitzky, M., Cohen, SB., Inbal, A., et al. Increased prevalence of trombophilia among women with severe ovarian hyperstimulation syndrome. Fertil Steril, 2002, 77, p. 463–467.
6. Dzandzhgava, ZG., Bitsadze, VO. IVF failures: maternal thrombophilia as a possible cause. Georgian Med News, 2005, 124–125, p. 23–26.
7. Fábregues, F., Tassies, D., Reverter, JC., et al. Prevalence of thrombophilia in women with severe ovarian hyperstimulation syndrome and cost-effectiveness of screening. Fertil Steril, 2004, 81, p. 989–995.
8. Gaillyová, R., Čech, Z., Vilémová, M., et al. Vrozené trombofilie a cytogenetické nálezy u pacientů s opakovanými fetálními ztrátami. Prakt Gyn, 2005, 9, s. 9–12.
9. Grandone, E., Margaglione, M., Colaizzo, D., et al. Genetic susceptibility to pregnancy-related venous thromboembolism: roles of factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations. Am J Obstet Gynec, 1998, 179, p. 1324–1328.
10. Hajšmanová, Z., Šlechtová, J., Šigutová, P., et al. Průběh těhotenství při dlouhodobém podávání nízkomolekulárního heparinu pro opakované těhotenské ztráty. Čes Gynek, 2008, 73, s. 278–283.
11. Hellgren, M., Svensson, PJ., Dahlbäck, B. Resistance to activated protein C as a basis for venous thromboembolism associated with pregnancy and oral contraceptives. Am J Obstet Gynecol, 1995, 173, p. 210–213.
12. Ivanov, P., Komsa-Penkova, R., Ivanov, I., et al. Plasminogen activator inhibitor type 1 activity in women with unexplained very early recurrent pregnancy loss. Akush Ginekol, 2010, 49, p. 3–8.
13. Kolár, J. Mikropartikuly – mikročástice s důležitými regulačními funkciami. In vitro diagnostika, 2011, 17, s. 16–22.
14. Kupferminc, MJ., Eldor, A, Steinman, N., et al. Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med, 1999, 340, p. 9–13.
15. Kvasnička, J. Trombofilie a trombotické stavy v klinické praxi. Praha: Grada Publiching a.s., 2003.
16. Lox, C., Caňez, M., Prien, S. The influence of hyperestrogenism during in vitro fertilization on the fibrinolytic mechanism. Int J Fertil Womens Med, 1998, 43, p. 34–39.
17. Magnani, B., Tsen, I., Datta, S., Bader, A. In vitro fertilization. Do short-term changes in estrogen levels produce increased fibrinolysis? Am J Clin Pathol, 1999, 112, p. 485–491.
18. Mára, M., Korytová, D., Řežábek, K., et al. Tromboembolické komplikace u pacientek z programu IVF – ET: Retrospektivní klinická studie. Čes Gynek, 2004, 69, s. 312–316.
19. Martinelli, I., Taioli, E., Ragni, G., et al. Embryo implantation after assisted reproductive procedures and maternal trombophilia. Haematologica, 2003, 88, p. 789–793.
20. Pabinger, I. Thrombophilia and its impact on pregnancy. Thromb Res, 2009, 123 (Suppl. 3), S16–S21.
21. Pastucha, D. Obesity, hypertension and insulin resistance in childhood – a pilot study. Biomed pap med Fac Univ Palacky Olomouc Czech Repub, 2010, 154, p. 245–249.
22. Poul, H. Trombofilní stavy významné v patogenezi žilní tromboembolické nemoci. Vnitř lék, 2006, 52 (Suppl 1), s. 17–25.
23. Qublan, HS., Eid, SS,, Ababneh, A., et al. Acquired and inherited trombophilia: implication in recurrent IVF and embryo transfer failure. Hum Reprod, 2006, 21, p. 2694–2698.
24. Raušová, E., Hadačová, I, Macek, M. Hereditární trombofilie – jeden z modelů molekulární medicíny. Klin Biochem Metab, 2005, 13, s. 68–76.
25. Simur, A., Ozdemir, S., Acar, H., et al. Repeated in vitro fertilization failure and its relation with trombophilia. Gynecol Obstet Invest, 2009, 67, p. 109–112.
26. Szymański, W., Walentowicz, M., Kotschy, M. Tissue-type plasminogen activator (T-PA) and plasminogen activator inhibitor (PAI-1) in human follicular fluid during gonadotropin-induced ovulation. Ginekol Pol, 2003, 74, p. 1386–1391.
27. Tan, JZ. Thrombophilia in pregnancy. Ann Acad Med Singapore, 2002, 31, p. 328–334.
28. Tsanadis, G., Vartholomatos, G., Korkontzelos, I., et al. Polycystic ovarian syndrome and trombophilia. Hum Reprod, 2002, 17, p. 314–319.
Štítky
Paediatric gynaecology Gynaecology and obstetrics Reproduction medicineČlánok vyšiel v časopise
Czech Gynaecology
2013 Číslo 1
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