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凝血因子V莱顿G1691A突变和凝血酶原基因G20210A突变对妊娠结局的影响。

Factor V Leiden G1691A and Prothrombin Gene G20210A Mutations on Pregnancy Outcome.

作者信息

Padda Jaskamal, Khalid Khizer, Mohan Ayushi, Pokhriyal Sindhu, Batra Nitya, Hitawala Gazala, Cooper Ayden Charlene, Jean-Charles Gutteridge

机构信息

Internal Medicine, JC Medical Center, Orlando, USA.

Internal Medicine, Avalon University School of Medicine, Willemstad, CUW.

出版信息

Cureus. 2021 Aug 15;13(8):e17185. doi: 10.7759/cureus.17185. eCollection 2021 Aug.

Abstract

Factor V Leiden (FVL) G1619A mutation and prothrombin gene (PTG) G20210A are the most common inherited thrombophilias. They have been associated with various obstetric complications such as venous thromboembolism, recurrent pregnancy loss, preeclampsia, abruptio placentae, and small for gestational age fetus. The prevalence of these two mutations is 3-15% in Caucasians and is assumed to be far less common in other ethnic populations. However, there have been several controversies regarding advising routine screening of these thrombophilias because of a widely variable strength of association between different ethnic groups, as well as contradictory conclusions by different studies in regards to the association. In this study, the literature was analyzed thoroughly for the effect of FVL G1619A and PTG G20210A mutations on various obstetric outcomes. A review of multiple case-control and prospective studies suggests that despite the availability of robust data on this subject the results remain inconclusive and insubstantial. Further superior quality research, preferably prospective studies, is warranted to conclusively establish this relationship and to enable practitioners to follow a definitive protocol in the screening of various populations for these mutations to achieve an improved pregnancy outcome.

摘要

因子V莱顿(FVL)G1619A突变和凝血酶原基因(PTG)G20210A是最常见的遗传性易栓症。它们与多种产科并发症相关,如静脉血栓栓塞、复发性流产、子痫前期、胎盘早剥和小于胎龄儿。这两种突变在白种人中的患病率为3%-15%,在其他种族人群中被认为远没有那么常见。然而,由于不同种族群体之间关联强度差异很大,以及不同研究关于这种关联得出相互矛盾的结论,对于建议对这些易栓症进行常规筛查一直存在一些争议。在本研究中,对FVL G1619A和PTG G20210A突变对各种产科结局的影响进行了全面的文献分析。对多个病例对照研究和前瞻性研究的综述表明,尽管关于这个主题有大量可靠数据,但结果仍然没有定论且不充分。需要进一步开展更高质量的研究,最好是前瞻性研究,以最终确定这种关系,并使从业者能够遵循明确的方案对不同人群进行这些突变的筛查,从而改善妊娠结局。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a71/8439407/a62cf3775ef9/cureus-0013-00000017185-i01.jpg

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