Skrzypczak Jana, Rajewski Marcin, Wirstlein Przemysław, Goździewicz Tomasz, Breborowicz Grzegorz, Leszczyńska-Gorzelak Bozena, Ludwikowski Grzegorz, Preis Krzysztof, Wołczyński Sławomir, Zimmer Mariusz
Klinika Rozrodczości, Katedry Ginekologii, Połoznictwa i Ginekologii Onkologicznej Uniwersytetu Medycznego w Poznaniu, Polska.
Ginekol Pol. 2012 May;83(5):330-6.
The aim of this study was to estimate the prevalence of factor V Leiden and prothrombin gene G20210A mutation among women with pregnancy loss in Poland.
we analyzed a group of 396 women (mean age of 30.4 (+/- 4.6) years), who experienced at least one pregnancy loss. Patients were recruited from 6 academic centers (Poznań, Białystok, Lublin, Wrocław Bydgoszcz, Gdańsk), and were divided into the following groups: 122 patients with 3 episodes of early recurrent pregnancy loss (group 1), 87 patients with late pregnancy loss (group 2) and 46 patients with intrauterine pregnancy loss (group 3). Patients who did not fulfill the above inclusion criteria were divided into additional groups. 50 healthy women (mean age of 29.2 (+/- 4.5) years), having at least one child, constituted the control group. Factor V Leiden mutation and prothrombin G20210A gene mutation were examined in all 396 women with pregnancy loss and 50 controls. For molecular analysis peripheral blood was tested. Genome DNA isolation from lymphocyte was performed with commercial assay QIAampDNA Blood Mini Kit.
Among 396 women with unexplained loss of at least one pregnancy 36 (9.1%) were carriers of inherited thrombophilia. Factor V Leiden mutation was present in 29 women (73%), prothrombin gene mutation G20210A in 6 (1.5%) and in 1 (0.3%) patient both mutations were detected. No coagulation defects were found in the control group. Factor V Leiden mutations was the most common disorder (21.7%) in patients with intrauterine demise and was significantly higher than in the group of women with early recurrent and late losses, p<0.011 and p<0,006 respectively The frequency of G20210 A prothrombin gene mutation did not differ substantially between the examined groups; the highest number (2.6%) was found in women with early and late pregnancy losses, and the lowest number (0.8%) was seen in women with early recurrent miscarriages.
Factor V Leiden screening should be performed, regardless of negative history of thrombosis, in patients who experienced intrauterine fetal demise or recurrent early miscarriages.
本研究旨在评估波兰妊娠丢失女性中凝血因子V莱顿突变和凝血酶原基因G20210A突变的患病率。
我们分析了一组396名女性（平均年龄30.4（±4.6）岁），她们经历过至少一次妊娠丢失。患者从6个学术中心（波兹南、比亚韦斯托克、卢布林、弗罗茨瓦夫、比得哥什、格但斯克）招募，并分为以下几组：122名有3次早期复发性妊娠丢失的患者（第1组），87名晚期妊娠丢失的患者（第2组）和46名宫内妊娠丢失的患者（第3组）。未满足上述纳入标准的患者被分为其他组。50名健康女性（平均年龄29.2（±4.5）岁），育有至少一个孩子，构成对照组。对所有396名妊娠丢失女性和50名对照进行凝血因子V莱顿突变和凝血酶原G20210A基因突变检测。分子分析检测外周血。使用商业试剂盒QIAampDNA Blood Mini Kit从淋巴细胞中分离基因组DNA。
在396名原因不明的至少一次妊娠丢失女性中，36名（9.1%）为遗传性易栓症携带者。29名女性（73%）存在凝血因子V莱顿突变，6名（1.5%）存在凝血酶原基因突变G20210A，1名（0.3%）患者同时检测到两种突变。对照组未发现凝血缺陷。凝血因子V莱顿突变是宫内死亡患者中最常见的疾病（21.7%），显著高于早期复发性和晚期妊娠丢失女性组，分别为p<0.011和p<0.006。凝血酶原基因G20210A突变在所检查的组之间差异不大；在早期和晚期妊娠丢失女性中发现的数量最多（2.6%），在早期复发性流产女性中发现的数量最少（0.8%）。
对于经历过宫内胎儿死亡或复发性早期流产的患者，无论有无血栓形成阴性病史，均应进行凝血因子V莱顿筛查。
