Genetic Investigation of Recurrent Pregnancy Loss

By Prof. Vajira H. W. Dissanayake

Published in the News Letter of the Perinatal Society of Sri Lanka, June 2007.

Recurrent pregnancy loss, defined as the spontaneous loss of three or more consecutive pregnancies, affects between 0.5 and 3% of couples (Li et al., 2002). Several etiological factors have been proposed as a cause for recurrent pregnancy losses.

The risk of recurrent pregnancy loss is significantly increased in women with thrombophilias (Sarig et al. 2002). There are three very well recognised genetic thrombophilic polymorphisms. They are the Factor V 1691G>A, Prothrombin 20210G>A and Methylenetetrahydrofolate (MTHFR) 677C>T polymorphisms. The association of the