Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases

Yeğin, Gülin Feykan; CEYLAN, Gülay Güleç; Tas, Emre Erdem; Yavuz, Ayse Filiz; Keskin, Huseyin Levent; Aktepe Keskin, Esra; iltemir duvan, candan

Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases

Gulin AKÇAY, (Yildirim Beyazit University, Ataturk Education and Research Hospital, Department of Gynecology and Obstetrics, Ankara)

Hüseyin Levent KESKİN, (Yildirim Beyazit University, Ataturk Education and Research Hospital, Department of Gynecology and Obstetrics, Ankara)

Esra AKTEPE KESKIN, (Medisis Hospital , Department of Gynecology and Obstetrics, Ankara)

Emre Erdem TAŞ, (Yildirim Beyazit University, Ataturk Education and Research Hospital, Department of Gynecology and Obstetrics, Ankara)

Candan DUVAN, (Medical Park Hospital, Department of Gynecology and Obstetrics, Ankara)

Gülay Güleç CEYLAN, (Yildirim Beyazit University, Ataturk Education and Research Hospital, Department of Genetics, Ankara)

Ayşe Filiz YAVUZ (Yildirim Beyazit University, Ataturk Education and Research Hospital, Department of Gynecology and Obstetrics, Ankara)

Ege Klinikleri Tıp Dergisi

8 1

Yıl: 2020 Cilt: 58 Sayı: 2 Sayfa Aralığı: 150 - 155 Metin Dili: İngilizce İndeks Tarihi: 23-01-2022

Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases

Öz:

Aim: To determine the frequency of hereditary thrombophilia gene mutations in patients with a history of habitual and to investigate the effect of thromboprophylaxy on pregnancy outcomes. Material and Methods: This prospective cohort study included 278 patients with the history of habitual abortion who applied for follow-up in their current pregnancy. Study population were divided into two groups as thromboprophylaxy (low molecular weight heparin (LMWH) ± Acetylsalicylic acid (ASA)) and no teratment group. Thromboprophylaxy group was also categorized into two subgroups as only LMWH and LMWH + ASA group. Demographic characteristics, obstetric history and maternal hereditary thrombophilia gene mutations (MTHFR (Methylenetetrahydrofolate reductase), C677T, MTHFR A1298C, FV G1691A (Leiden), FV H1299A-R2, FII (prothrombin) G20210) were recorded and compared between groups. P <0.05 was considered statistically significant. Results: There was no mutation in 29 (10.4%) cases and the most common genetic mutation was MTHFR C677T and/or A1298C (n=243, 87.4%) in the remained cohort. Thromboprophylaxy; increased the live birth rates in patients with multiple gene mutations (64.4% vs 12.5%, p = 0.006) and alone heterozygous MTHFR mutation (64.5% vs 41.2%, p = 0.010). However, adding antiaggregant (ASA) to empiric anticoagulant (LMWH) therapy has not been shown to have any significant effect on live birth rates, preterm birth rates, birth time and birth weight (p> 0.05). Conclusion: In current study, the most common hereditary thrombophilia gene defect was; MTHFR A1298 heterozygous mutation. The live birth rates increased with thromboprophylaxy in groups with heterozygous mutations of 2 or more, only MTHFR and multiple gene mutations.

Anahtar Kelime:

Habitüel Abortus Olgularında Kalıtsal Trombofili ile İlişkili Genetik Mutasyonların Sıklığı ve Tromboprofilaksinin Gebelik Sonuçlarına Etkisi

Öz:

Amaç: Habituel abortus olgularında kalıtsal trombofili gen mutasyonlarının sıklığını belirlemek ve antitrombotik tedavinin gebelik sonuçlarına etkisini araştırmaktır. Gereç ve Yöntemler: Bu prospektif kohort çalışmaya, habitüel abortus öyküsü olan ve mevcut gebeliğinde takip için başvuran 278 hasta dahil edilmiştir. Çalışma popülasyonu, tromboprofilaksi (düşük moleküler ağırlıklı heparin (LMWH)  Asetilsalisilikasit (ASA)) uygulanan ve uygulanmayan olarak iki gruba ayrılmıştır. Tromboprofilaksi uygulanan grup ise; sadece LMWH ve LMWH+ASA uygulanan gruplar şeklinde iki alt gruba ayrılmıştır. Tıbbi veriler, obstetrik öykü ve maternal kalıtsal trombofili gen mutasyonu (MTHFR (Metilentetrahidrofolat redüktaz), C677T, MTHFR A1298C, FV G1691A (Leiden), FV H1299A-R2, FII (protrombin) G20210) sonuçları kaydedilmiş ve gruplar arasında karşılaştırma yapılmıştır. P <0,05 istatistiksel olarak anlamlı kabul edilmiştir. Bulgular: 29 (%10.4) olguda mutasyon saptanmamıştır ve kalan kohortta en sık görülen genetik mutasyon MTHFR C677T ve / veya A1298C (n = 243, %87.4)’ dir. Çoklu gen mutasyonları (%64.4'e karşı %12.5, p = 0.006) ve tek başına heterozigot MTHFR mutasyonu (%64.5'e karşı %41.2, p = 0.010) olan olgularda tromboprofilaksinin uygulanması; canlı doğum oranlarını arttırmıştır. Ancak ampirik antikoagülan (LMWH) tedaviye antiagregan (ASA) eklenmesinin, tek başına LMWH uygulamasına göre; canlı doğum oranları, erken doğum oranları, doğum zamanı ve doğum ağırlığına anlamlı bir etkisi olmadığı gösterilmiştir (p> 0.05). Sonuç: Habitüel abortus olgularında en sık görülen kalıtsal trombofili gen defekti; MTHFR A1298 heterozigot mutasyonu olarak saptanmıştır. Sadece MTHFR, çoklu gen mutasyonu veya 2 ve daha fazla heterozigot mutasyonu olan gruplarda tromboprofilaksi ile canlı doğum oranları artmıştır.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Diğer Erişim Türü: Erişime Açık

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APA	Yeğin G, Keskin H, Aktepe Keskin E, Tas E, iltemir duvan c, CEYLAN G, Yavuz A (2020). Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases. , 150 - 155.
Chicago	Yeğin Gülin Feykan,Keskin Huseyin Levent,Aktepe Keskin Esra,Tas Emre Erdem,iltemir duvan candan,CEYLAN Gülay Güleç,Yavuz Ayse Filiz Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases. (2020): 150 - 155.
MLA	Yeğin Gülin Feykan,Keskin Huseyin Levent,Aktepe Keskin Esra,Tas Emre Erdem,iltemir duvan candan,CEYLAN Gülay Güleç,Yavuz Ayse Filiz Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases. , 2020, ss.150 - 155.
AMA	Yeğin G,Keskin H,Aktepe Keskin E,Tas E,iltemir duvan c,CEYLAN G,Yavuz A Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases. . 2020; 150 - 155.
Vancouver	Yeğin G,Keskin H,Aktepe Keskin E,Tas E,iltemir duvan c,CEYLAN G,Yavuz A Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases. . 2020; 150 - 155.
IEEE	Yeğin G,Keskin H,Aktepe Keskin E,Tas E,iltemir duvan c,CEYLAN G,Yavuz A "Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases." , ss.150 - 155, 2020.
ISNAD	Yeğin, Gülin Feykan vd. "Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases". (2020), 150-155.

APA	Yeğin G, Keskin H, Aktepe Keskin E, Tas E, iltemir duvan c, CEYLAN G, Yavuz A (2020). Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases. Ege Klinikleri Tıp Dergisi, 58(2), 150 - 155.
Chicago	Yeğin Gülin Feykan,Keskin Huseyin Levent,Aktepe Keskin Esra,Tas Emre Erdem,iltemir duvan candan,CEYLAN Gülay Güleç,Yavuz Ayse Filiz Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases. Ege Klinikleri Tıp Dergisi 58, no.2 (2020): 150 - 155.
MLA	Yeğin Gülin Feykan,Keskin Huseyin Levent,Aktepe Keskin Esra,Tas Emre Erdem,iltemir duvan candan,CEYLAN Gülay Güleç,Yavuz Ayse Filiz Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases. Ege Klinikleri Tıp Dergisi, vol.58, no.2, 2020, ss.150 - 155.
AMA	Yeğin G,Keskin H,Aktepe Keskin E,Tas E,iltemir duvan c,CEYLAN G,Yavuz A Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases. Ege Klinikleri Tıp Dergisi. 2020; 58(2): 150 - 155.
Vancouver	Yeğin G,Keskin H,Aktepe Keskin E,Tas E,iltemir duvan c,CEYLAN G,Yavuz A Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases. Ege Klinikleri Tıp Dergisi. 2020; 58(2): 150 - 155.
IEEE	Yeğin G,Keskin H,Aktepe Keskin E,Tas E,iltemir duvan c,CEYLAN G,Yavuz A "Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases." Ege Klinikleri Tıp Dergisi, 58, ss.150 - 155, 2020.
ISNAD	Yeğin, Gülin Feykan vd. "Prevalence of Genetic Mutations Related With Hereditary Thrombofilia and the Effects of Thromboprophylaxy on Pregnancy outcomes in Habitual Abortion Cases". Ege Klinikleri Tıp Dergisi 58/2 (2020), 150-155.