Objective: Antiphospholipid antibodies (APA) and other coagulation abnormalities have been associated with an increased risk of venous, arterial, and placental thrombosis and recurrent pregnancy loss (RPL). Factor V Leiden (a point mutation [1691G-->A] in the factor V gene), the prothrombin 20210G-->A mutation, and homozygosity for a common polymorphism in the methylene tetrahydrofolate reductase (MTHFR) gene (677C-->T) have been associated with arterial and venous thrombosis and arterial occlusive disease. We explored an association between these markers of thrombophilic states and RPL.
Design: Prospective case-control evaluation.
Setting: University-associated private practice.
Patient(s): Fifty nonpregnant women with three or more pregnancy losses and 50 healthy, nonpregnant controls.
Intervention(s): None.
Main outcome measure(s): Anticardiolipin and antiphosphatidylserine antibodies were detected in serum by ELISA. Polymerase chain reaction was performed to identify the factor V Leiden (1691G-->A) mutation, the thermobile MTHFR (677C-->T) mutation, and the prothrombin 20210G-->A mutation.
Result(s): The following were identified by restriction fragment-linked polymorphism analyses: 1 (2%) factor V Leiden heterozygosity; 1 (2%) prothrombin 20210G-->A heterozygosity; and 4 (8%) thermolabile MTHFR homozygosity. None of these mutation frequencies in women with RPL were statistically significantly different from controls.
Conclusion(s): These data suggest that factor V Leiden, thermolabile MTHFR (677C-->T), and prothrombin 20210G-->A are not found at an increased frequency in women with a history of early RPL.