Hypercoagulable state mutation analysis in white patients with early first-trimester recurrent pregnancy loss

Objective: Antiphospholipid antibodies (APA) and other coagulation abnormal ities 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 te trahydrofolate 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 antibod ies were detected in serum by ELISA. Polymerase chain reaction was performe d to identify the factor V Leiden (1691G-->A) mutation, the thermobile MTHF R (677C-->T) mutation, and the prothrombin 20210G-->A mutation. Result(s): The following were identified by restriction fragment-linked pol ymorphism analyses: 1 (2%) factor V Leiden heterozygosity; 1 (2%) prothromb in 20210G-->A heterozygosity; and 4 (8%) thermolabile MTHFR homozygosity. N one of these mutation frequencies in women with RPL were statistically sign ificantly 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 freque ncy in women with a history of early RPL. (Fertil Steril(R) 1999;71:1048-53 . (C) 1999 by American Society for Reproductive Medicine.).