PDF(Pubmed)
Abstract：
UNASSIGNED: Inherited thrombophilia, mainly the Factor V Leiden (FVL) and Prothrombin mutation (PTM) are the most risk factors for venous thrombosis especially during pregnancy and was strongly associated with recurrent pregnancy loss (RPL), a devastating reproductive problem that affects more than 1% of couples who are trying to conceive. The frequencies also the correlation among these polymorphisms and RPL have been reported controversially in various populations.
UNASSIGNED: In this study we evaluated the presence inherited thrombophilia amongst 35 Tunisian women with more than 2 miscarriages, referred to our genetic counseling.
UNASSIGNED: DNA was extracted from peripheral blood samples and PCR-RFLP was performed for the molecular diagnosis of mutation.
UNASSIGNED: FVL and PTM were detected in 5.7 % and 2.9% respectively; in women with a particular history of early fetal loss and thrombotic events.
UNASSIGNED: This study emphasizes the importance of testing for FVL and FIIM in women with RPL; mainly in the context of thrombotic events. Multi-center collaboration is necessary to clarify the real impact of thrombotic molecular defects on the pregnancy outcome, to ascertain the effect of inherited thrombophilia on recurrent pregnancy loss and then to evaluate the appropriate therapeutic approach.
UNASSIGNED: In this study we evaluated the presence inherited thrombophilia amongst 35 Tunisian women with more than 2 miscarriages, referred to our genetic counseling.
UNASSIGNED: DNA was extracted from peripheral blood samples and PCR-RFLP was performed for the molecular diagnosis of mutation.
UNASSIGNED: FVL and PTM were detected in 5.7 % and 2.9% respectively; in women with a particular history of early fetal loss and thrombotic events.
UNASSIGNED: This study emphasizes the importance of testing for FVL and FIIM in women with RPL; mainly in the context of thrombotic events. Multi-center collaboration is necessary to clarify the real impact of thrombotic molecular defects on the pregnancy outcome, to ascertain the effect of inherited thrombophilia on recurrent pregnancy loss and then to evaluate the appropriate therapeutic approach.
摘要：
■遗传性血栓症，主要是因子V莱顿（FVL）和凝血酶原突变（PTM）是静脉血栓形成的最危险因素，尤其是在怀孕期间，并且与复发性妊娠丢失（RPL）密切相关。一个毁灭性的生殖问题，影响到超过1%的试图怀孕的夫妇。在各种人群中，这些多态性与RPL之间的相关性也有争议。
在这项研究中，我们评估了35名患有2次以上流产的突尼斯妇女的遗传性血栓形成倾向，提到了我们的遗传咨询。
■从外周血样本中提取DNA并进行PCR-RFLP用于突变的分子诊断。
■FVL和PTM分别为5.7%和2.9%；在有早期胎儿丢失和血栓事件病史的女性中。
■这项研究强调了在患有RPL的女性中进行FVL和FIM测试的重要性；主要是在血栓形成事件的背景下。多中心协作是必要的，以明确血栓分子缺陷对妊娠结局的真正影响，确定遗传性易栓症对复发性妊娠丢失的影响，然后评估适当的治疗方法。
在这项研究中，我们评估了35名患有2次以上流产的突尼斯妇女的遗传性血栓形成倾向，提到了我们的遗传咨询。
■从外周血样本中提取DNA并进行PCR-RFLP用于突变的分子诊断。
■FVL和PTM分别为5.7%和2.9%；在有早期胎儿丢失和血栓事件病史的女性中。
■这项研究强调了在患有RPL的女性中进行FVL和FIM测试的重要性；主要是在血栓形成事件的背景下。多中心协作是必要的，以明确血栓分子缺陷对妊娠结局的真正影响，确定遗传性易栓症对复发性妊娠丢失的影响，然后评估适当的治疗方法。
