TEKRARLAYAN GEBELİK KAYBI OLAN KADINLARDA TROMBOFİLİ İNSİDANSI VE SPEKTRUMU: RETROSPEKTİF BİR ÇALIŞMA

Amaç: Genellikle 20. gebelik haftasından önce >2 ardışık gebelik kaybı olarak bilinen tekrarlayan gebelik kaybı (RPL), kadınların %3-5'inde görülmektedir. Amaç, RPL'li kadın hastalarda kalıtsal trombofili ile sık görülen varyantların (Metilentetrahidrofolat Redüktaz; MTHFR C677T ve MTHFR A1298C polimorfizmleri; FV Leiden G1691A ve Protrombin G20210A mutasyonu) frekansını değerlendirmektir. Gereç ve yöntem: Bu retrospektif kohort çalışması 2020 ile 2022 yılları arasındadır. İki veya daha fazla gebelik kaybı olan 380 kadında MTHFR C677T ve MTHFR A1298C polimorfizmleri, FV Leiden G1691A ve Protrombin G20210A mutasyonlarının sıklığını araştırdık. Bulgular: Hastaların ortalama yaşı 32.6 yıl (dağılım: 18-46) idi. Bu grupta en sık gözlenen varyant, MTHFR677 polimorfizmi için bir heterozigot mutasyonuydu (n=163, %42.8). İkinci en yaygın varyant, %41.1 (n=156) sıklık ile MTHFR A1298C heterozigotluğuydu. En az yaygın varyant ise FII homozigotluğuydu (%0.3). Heterozigot FII ve FV Leiden (G1691A) mutasyonları sırasıyla hastaların %1.8'inde (1/380) ve %8.4'ünde (7/380) bulundu. Sonuç: Trombofilik varyantların (FV Leiden G1691A ve Prothrombin G20210A) RPL'de önemli bir rolü olduğu görülmektedir. Altta yatan bir trombofili tespiti, RPL'den muzdarip çiftler için erken ve uygun tedaviye başlamak için önemli olabilir.

Anahtar Kelimeler:

Factor V Leiden, hereditary thrombophilia, Prothrombin, recurrent pregnancy loss, retrospective study

INCIDENCE AND SPECTRUM OF THROMBOPHILIA IN WOMEN WITH RECURRENT PREGNANCY LOSS: A RETROSPECTIVE STUDY

Objective: Recurrent pregnancy loss (RPL), which is generally known as >2 consecutive pregnancy losses before 20 weeks' gestation, is seen in between 3-5% of women. The aim is to evaluate the frequency of common variants with hereditary thrombophilia; (Methylenetetrahydrofolate Reductase; MTHFR C677T and MTHFR A1298C polymorphisms; FV Leiden G1691A and Prothrombin G20210A mutation) in female patients with RPL. Materials and Methods: This retrospective cohort study is between the years 2020 and 2022. We investigated the frequency of the MTHFR C677T and MTHFR A1298C polymorphisms, FV Leiden G1691A and Prothrombin G20210A mutations in 380 females suffering from two or more pregnancy losses. Results: The mean age of the patients was 32.6 years (range: 18-46). The most frequently observed variant in this group was a heterozygote mutation for the MTHFR677 polymorphism (n=163, 42.8%). The second most common variant was MTHFR A1298C heterozygosity with a frequency of 41.1% (n=156). The least common variant is FII homozygosity (0.3%). Heterozygous of FII and FV Leiden (G1691A) mutations were found in 1.8% (1/380) and 8.4% (7/380) of the patients, respectively. Conclusion: The thrombophilic variants (FV Leiden G1691A and Prothrombin G20210A) seem to have an important role in RPL. Detection of an underlying thrombophilia may be important to begin early and appropriate treatment for couples suffering from RPL.

Keywords:

Factor V Leiden, hereditary thrombophilia, Prothrombin, recurrent pregnancy loss, retrospective study,

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