The occurence of genetic trombophilic markers in patients evaluated for infertility

Czech version

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‘ workplace: 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: Ceska Gynekol 2013; 78(1): 73-77

Overview

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

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