Tekrarlayan Gebelik Kaybı Etyolojisinde Kromozomal Bozuklukların ve Kalıtsal Trombofili Faktörlerinin Rolü

Tekrarlayan gebelik kayıpları üç veya daha fazla ardışık düşüğün görülmesi olarak tanımlanır ve kadınların %0,5-3'de meydana gelir. Etyolojisinde suçlanmakta olan nedenlerden bir kısmı da trombofiliye yatkınlık yaratan gen mutasyonları ve kromozomal bozukluklardır. Bu çalışmaya tekrarlayan gebelik kaybı nedeni ile araştırılan 103 hasta dahil edilmiştir. Tekrarlayan gebelik kaybı etyolojisinde kromozomal bozukluk ve kalıtsal trombofili faktörlerinin sıklığının saptanması amaçlanmıştır. Heparinli enjektörlere alınan periferik kanın kültüre edilmesi ile karyotip analizi yapılmış ve polimeraz zincir reaksiyonu yöntemi ile de metilentetrahidrofolat redüktaz, Faktör V Leiden ve Protrombin G20210A gen mutasyonu araştırılmıştır. 103 kadından 2'sinde (%1,94) 9. kromozomda inversiyon saptanırken, 103 erkekten 1'inde (%0,97) 9. kromozomda inversiyon ve 1'inde de (%0,97) 3,14 translokasyonu saptanmıştır. MTHFR, FV Leiden ve Protrombin G20210A genlerinde heterozigot mutasyonlara sırası ile 48 (%46,6), 6 (%5,82) ve 3 (%2,91) ve homozigot mutasyonlara sırası ile 19 (%18,44), 1 (%0,97) ve 0 (%0) kadında rastlanmıştır. Bu çalışmada tekrarlayan gebelik kayıplarının etyopatolojisinde kromozomal bozuklukların ve kalıtsal trombofilinin rolü olabileceği gösterilmiştir

The Role of Chromosomal Abnormalities and Hereditary Thrombophilia Factors at Recurrent Pregnancy Loss

Three or more miscarriages are termed as recurrent pregnancy loss and the insidance is 0.53%. Some of the reasons being implicated in the etiology are chromosomal abnormalities and hereditary thrombophilia. 103 couples with recurrent pregnancy loss were examined about chromosomal abnormalities and hereditary thrombophilic factors. Peripheral blood samples were taken in heparinized syringes and cultured for karyotype analysis and polimerase chain reaction was used for methilenetetrahydrofolate reductase, Factor V Leiden and prothrombin G20210A gene mutations. 2(1.94%) women of 103 have inversion on 9th chromosome, 1 (0.97%) man of 103 has inversion on 9th chromosome and 1 (0.97%) man of 103 has translocation between 3rd and 14th chromosomes. The heterozygous mutations of methylenetetrahydrofolate reductase, Factor V Leiden and prothrombine G20210A detected at 48 (46.6%), 6 (5.82%) and 3 (2.91%) women respectively and homozygous mutations detected at 19 (18.44%), 1 (0.98%) and 0 (0%) women respectively. This study reported that chromosomal abnormalities and hereditary thrombophilia can take a role at recurrent pregnancy loss

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