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The Role of Chromosomal Abnormalities and Hereditary Thrombophilia Factors at Recurrent Pregnancy Loss [Tekrarlayan Gebelik Kaybı Etyolojisinde Kromozomal Bozuklukların ve Kalıtsal Trombofili Faktörlerinin Rolü]

Senem Arda Duz.




Abstract

Three or more miscarriages are termed as recurrent pregnancy loss and the insidance is 0.5-3%. 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.

Key words: Factor V leiden, methylenetetrahydrofolate reductase, prothrombin G20210A, recurrent pregnancy loss






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