MTHFR gen polimorfizmi olan hastalarda gebelik sonuçları: Vaka serisi

Amaç: Literatürde MTHFR polimorfizminin genel popülasyonda sık görüldüğü, gebelik komplikasyonları ile zayıf ilişkili olduğu için tedavi konusunda tartışmalı olarak görülmektedir. Bu çalışmada MTHFR polimorfizmi olan hastalara tedavi ile gebelik sonuçlarının ilişkisinin araştırılması amaçlanmıştırYöntemler: Haziran 2012-Nisan 2020 tarihleri arasında MTHFR C677T ve A1298C polimorfizmi tanısı olan, gebeliği boyunca takip edilen ve tedavi uygulanan 48 hastanın verileri geriye dönük olarak taranmıştır. Hastaların demografik ve klinik özellikleri; demografik özellikleri, gebelik öyküsü, tanı perinatal komplikasyonlar incelenmiştir. Hastaların tedavi öncesi ve sonrası verileri karşılaştırılmıştır.Bulgular: Hastaların uygulanan tedavi öncesi ve sonrası gebelik verileri karşılaştırıldığında canlı doğum oranlarını tedavi sonrasında anlamlı yüksek olduğu(tedavi öncesi: %9,4, sonrası: %68,7, P=0,001), abort oranlarının ise tedavi sonrasında anlamlı düşük olduğu gözlenmiştir(tedavi öncesi: %81,2, sonrası: %32,1, P=0,001). Hastaların toplam 9’unda (%18,3) gebelik komplikasyonu gözlenmiştir. MTHFR gen mutasyonu olan hastalardan tedavi sonrasında MTHFR A1298C heterozigot olanların 24,12 kat, gebe kalma yaşında her bir azalma için 3,76 kat gebeliğin canlı doğum ile sonuçlandığı gözlenmiştir.Sonuç: MTHFR polimorfizmi olan gebelerde metiyoninden fakir diyet ve medikal tedavinin gebelik sonuçlarına olumlu etki ettiği kanaatine varılmıştır. Aynı zamanda MTHFR gen polimofizmleri içinden MTHFR A1298C heterozigot olan genç hastaların en iyi tedavi sonuçlarına sahip olduğu gözlenmiştir.

Anahtar Kelimeler:

MTHFR C677T, MTHFR A1298C, Tedavi, İn-vitro fertilizasyon, Abortus, Komplikasyon

Pregnancy outcomes in patients with MTHFR gene polymorphism: A case series

Aim: Based on the literature, MTHFR polymorphism is common among the general population and is controversial in terms of treatment, as it is poorly associated with pregnancy complications. In this study, we aimed to investigate the relationship between treatment and pregnancy outcomes in patients with MTHFR polymorphism.Methods: The data of 48 patients who were diagnosed with MTHFR C677T and A1298C polymorphism between June 2012 and April 2020 and followed up during their pregnancy were reviewed retrospectively. Demographic and clinical features of patients, pregnancy history, diagnosis, and perinatal complications were examined. Pre- and post-treatment clinical features of the patients were compared.Results: Comparison of pre- and post-treatment pregnancy data of the patients revealed that live birth rates were significantly higher (pre-treatment: 9.4% post-treatment: 68.7%, P=0.001) and abortion rates were significantly lower after treatment (pre-treatment: 81.2%, post-treatment: 32.1%, P=0.001). Pregnancy complications were observed in 9 (18.3%) patients. It was observed that among patients with MTHFR gene mutation, live birth rates increased by 24.12-fold and by 3.76-fold for each year of decrease in the age of conception following treatment. Conclusion: In pregnant women with MTHFR polymorphism, methionine-poor diet and medical treatment had a positive effect on pregnancy outcomes. It was also observed that among those with MTHFR gene polymorphism, young patients with MTHFR A1298C heterozygotes had the best treatment results.

Keywords:

MTHFR C677T, MTHFR A1298C, Treatment, In-vitro fertilization, Abortion, Complication,

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