Is screening for hereditary thrombophilia indicated in first early pregnancy loss?

Abstract

The aim of the study was to evaluate the importance of screening for thrombophilic mutations after the first early pregnancy loss. Thrombophilic mutations were examinated in a sample of 100 women with at least one miscarriage.

We detected prevalence of factor V and II mutation of 9% and 3%, respectively. Single MTHFR mutation was found in 59% and double heterozygous MTHFR mutation in 23% of cases.

No mutation was present in only 6% of the study group. Heterozygous mutations of factor V occurred 1.8 times more frequently in our study group compared to the general Czech women population.

Also, the frequency of factor II mutation was 1.5-3 times higher.

Keywords

• early pregnancy loss
• thrombophilia
• factor V Leiden
• MTHFR C677T mutation
• MTHFR A1298C mutation, double MTHFR heterozygous mutation