Исследование мутаций гемостаза БЕСПОЛЕЗНО при повторных невынашиваниях

[Dr.Vad]

Обнаружение генетического полиморфизма (мутаций в том числе и среди молекул гемостаза) не способствует диагностике причин повторного невынашивания и не улучшает прогноз вынашивания при последующих беременностях:

Am J Reprod Immunol. 2012 Apr;67(4):341-7.
Genetic polymorphisms and recurrent spontaneous abortions: an overview of current knowledge.
Daher S, Mattar R, Gueuvoghlanian-Silva BY, Torloni MR.
Department of Obstetrics, Sao Paulo Federal University, Brazil.
The relevance of gene polymorphisms in the development of unexplained recurrent spontaneous abortion is still unclear. Cytokines, angiogenic mediators, and hormones are involved in all stages of reproduction and pregnancy outcome. Impaired production and/or unbalanced ratios of these mediators have been implicated in the pathogenesis of unexplained recurrent spontaneous abortion. Functional polymorphism influence gene activity and therefore can interfere with the expression of mediators. Several studies have been carried out to evaluate the relationship between cytokines, angiogenic mediators, and hormones gene polymorphisms and unexplained recurrent spontaneous abortion. The results of these studies are mostly contradictory, and few significant associations have been identified. Up to present time, the evidence is insufficient to support the evaluation of cytokines, angiogenic mediators, and hormones gene polymorphism in routine workup in all cases of recurrent pregnancy loss, and these tests are not included in any of the major obstetric guidelines.

[Esevroff]

The relevance of gene polymorphisms in the development of unexplained recurrent spontaneous abortion is still unclear.

[Dr.Vad]

Summary of Recommendations

The following recommendations are based on limited or inconsistent scientific evidence (Level B):
• Screening for inherited thrombophilias is not recommended for women with a history of fetal loss or adverse pregnancy outcomes including abruption, preeclampsia, or fetal growth restriction because there is insufficient clinical evidence that antepartum prophylaxis with unfractionated heparin or low-molecular-weight heparin prevents recurrence in these patients.
• Because of the lack of association between either heterozygosity or homozygosity for the MTHFR C677T polymorphism and any negative pregnancy outcomes, including any increased risk of VTE, screening with either MTHFR mutation analyses or fasting homocysteine levels is not recommended.
• Warfarin, low-molecular-weight heparin, and unfractionated heparin do not accumulate in breast milk and do not induce an anticoagulant effect in the infant; therefore, these anticoagulants may be used in women who breastfeed.

The following recommendations are based primarily on consensus and expert opinion (Level C):
• Among women with personal histories of VTE, recommended screening tests for inherited thrombophilias should include factor V Leiden mutation; prothrombin G20210A mutation; and antithrombin, protein S, and protein C deficiencies.
• All patients with inherited thrombophilias should undergo individualized risk assessment, which may modify management decisions regarding VTE prevention.

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ACOG Practice Bulletin No. 197
Summary: Inherited Thrombophilias in Pregnancy.
Obstet Gynecol. 2018 Jul;132(1):249-251