Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italy.
J Thromb Haemost. 2011 Mar;9(3):496-501. doi: 10.1111/j.1538-7836.2011.04183.x.
Although an association between thrombophilias and adverse pregnancy outcome has been shown, the influence of the most common inherited thrombophilias and the somatic mutation JAK2 V617F in determining an adverse outcome is questioned.
We examined the contribution of the factor V Leiden (FVL), the prothrombin G20210A (PTm) and the somatic JAK2 V617F mutations to adverse pregnancy outcome in an unselected cohort of pregnant women.
PATIENTS/METHODS: During the study period, 5345 pregnant women were admitted to the 14 hospitals of the five provinces of the Campania region (Italy). Of these, 3097 samples were investigated and obstetric history collected. The presence of the FVL, PTm, and JAK2 V617F mutation was prospectively determined by polymerase chain reaction followed by TaqMan SNP genotyping assays.
We identified 119 (3.8%) women that carried FVL and 138 (4.4%) with the PTm. Only 4 (0.1%) women carried both mutations. Only one woman tested positive for the JAK2 V617F somatic mutation. The prevalence of a previous history of an adverse pregnancy outcome was similar in women with common thrombophilias as compared to those without. In the current pregnancy, there was no association of any of the genetic markers considered with any of the adverse outcomes investigated. Carriership of FVL or PTm showed a positive trend with delivery of a small for gestational age newborn (OR: 1.5, 95% CI: 0.9-2.5). Pregnancy outcomes in asymptomatic women with inherited thrombophilias are often uneventful. Therefore, in women at low-risk of an adverse pregnancy, neither screening for common thrombophilias nor administration of routine thromboprophylaxis are warranted.
虽然已证实血栓形成倾向与不良妊娠结局之间存在关联，但最常见的遗传性血栓形成倾向以及体细胞突变 JAK2 V617F 在确定不良结局方面的影响仍存在争议。
我们在一个未经选择的孕妇队列中检查了因子 V 莱顿（FVL）、凝血酶原 G20210A（PTm）和体细胞 JAK2 V617F 突变对不良妊娠结局的影响。
患者/方法：在研究期间，5345 名孕妇被收入意大利坎帕尼亚地区的 14 家医院。其中，3097 例样本被调查并收集了产科病史。通过聚合酶链反应（PCR）随后进行 TaqMan SNP 基因分型检测，前瞻性地确定了 FVL、PTm 和 JAK2 V617F 突变的存在。
我们发现 119 名（3.8%）女性携带 FVL，138 名（4.4%）携带 PTm。只有 4 名（0.1%）女性同时携带这两种突变。只有一名女性检测到 JAK2 V617F 体细胞突变呈阳性。与无常见血栓形成倾向的女性相比，有既往不良妊娠史的女性中常见血栓形成倾向的发生率相似。在当前妊娠中，考虑的遗传标志物与任何不良结局均无关联。携带 FVL 或 PTm 与小于胎龄儿分娩呈正相关（OR：1.5，95%CI：0.9-2.5）。无症状携带遗传性血栓形成倾向的女性妊娠结局通常良好。因此，在低风险发生不良妊娠的女性中，没有必要筛查常见的血栓形成倾向，也没有必要常规进行血栓预防。
