In women who have had at least two spontaneous miscarriages it is recommended to perform tests to diagnose mutations in genes prediposing for thromboembolic disease (thrombosis). When a thrombus has been formed in the blood vessels of the placenta it may lead to a miscarriage. Blood clotting disorders are the main cause of this disease. Thanks to genetic testing it is possible to check for variants of genes that have a significant effect on the functioning of the blood clotting system. A positive result for the “Leiden mutation” increases the risk of thrombosis 30 times, adds dr Pukszta. As a result of a mutation in the prothrombin gene the risk of this disease increases 2–3 times.
An unfavourable variant of the MTHFR gene is the major cause of disorders of homocysteine metabolism leading to foetal defects or even miscarriages. After a genetic diagnosis but before a planned pregnancy, it is recommended to take vitamin B6 and folic acid and to continue taking them during pregnancy in order to minimise the possibility of undesired effects.