The effect of factor II, factor V, methylenetetrahydrofolate reductase gene mutations on the etiology of spontaneous abortions which have normal karyotype

In developed countries early pregnancy loss occurs in 10 % of pregnant women, late pregnancy loss occurs in 5 ? of these women. As haemostatic errors, happening due to coagulation factors, are able to close the placental vessels, they may cause to occur spontaneous abortion. Because of this thrombophilias are very important pathologies. In this study Factor II (G20210A), Factor V (Leiden), Methylenetetrahydrofolate reductase (C677T) gene mutations are invastigated in the DNA of both parents and fetus after eleminating abnormal chromosome settings in the fetus and maternal cell contamination in fetal DNA. We came across some studies on these gene mutations in the literature but investigations on fetal DNA are very limited. This study started with 70 patients who enrolled to Gazi University Medical Faculty Obstetrics and Gynaecology department because of spontaneous abortion. After long-term tissue culturing, in 26 abort material (37,1%) chromosome abnormalities are detected and this group is excluded from the study as it explains the reason for abortion. 46,XX chromosome setting is vii detected in 38 material so that moleculer studyings for maternal cell contamination are done. It is seen that in 34 patients (89,4%) the cells are belong to mother. According to this results 6 materials having 46,XY karyotype and 4 materials having 46,XX karyotype are scanned for mutations. In this study, although restrictred number of DNAs? thrombophily mutations could be performed, as the data reflect the true components of the pregnancy losses through a efficient algorithm, they are very valuable.