Multiple thrombophilic single nucleotide polymorphisms lack a significant effect on outcomes in fresh IVF cycles: an analysis of 1717 patients

J Assist Reprod Genet. 2016 Jan;33(1):67-73. doi: 10.1007/s10815-015-0606-z. Epub 2015 Nov 6.


Purpose: The aim of the study is to determine if thrombophilic single nucleotide polymorphisms (SNPs) affect outcomes in fresh in vitro fertilization (IVF) cycles in a large general infertility population.

Methods: A prospective cohort analysis was performed at a university-affiliated private IVF center of female patients undergoing fresh non-donor IVF cycles. The effect of the following thrombophilic SNPs on IVF outcomes were explored: factor V (Leiden and H1299R), prothrombin (G20210A), factor XIII (V34L), β-fibrinogen (-455G → A), plasminogen activator inhibitor-1 (4G/5G), human platelet antigen-1 (a/b9L33P), and methylenetetrahydrofolate reductase (C677T and A1298C). The main outcome measures included positive pregnancy test, clinical pregnancy, embryo implantation, live birth, and pregnancy loss.

Results: Patients (1717) were enrolled in the study, and a total of 4169 embryos were transferred. There were no statistically significant differences in positive pregnancy test, clinical pregnancy, embryo implantation, live birth, or pregnancy loss in the analysis of 1717 patients attempting their first cycle of IVF. Receiver operator characteristics and logistic regression analyses showed that outcomes cannot be predicted by the cumulative number of thrombophilic mutations present in the patient.

Conclusions: Individual and cumulative thrombophilic SNPs do not affect IVF outcomes. Therefore, initial screening for these SNPs is not indicated.

Trial registration: NCT01223092.

Keywords: IVF outcomes; Infertility; Pregnancy; SNP; Thrombophilia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antigens, Human Platelet / genetics
  • Embryo Implantation / genetics
  • Factor V / genetics
  • Factor XIII / genetics
  • Female
  • Fertilization in Vitro*
  • Fibrinogen / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Infertility / genetics*
  • Infertility / pathology
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Mutation
  • Plasminogen Activator Inhibitor 1 / genetics
  • Polymorphism, Single Nucleotide
  • Pregnancy
  • Pregnancy Outcome / genetics*
  • Prothrombin / genetics
  • Thrombophilia / genetics*
  • Thrombophilia / pathology


  • Antigens, Human Platelet
  • FGB protein, human
  • Plasminogen Activator Inhibitor 1
  • SERPINE1 protein, human
  • Factor V
  • Prothrombin
  • Fibrinogen
  • Factor XIII
  • Methylenetetrahydrofolate Reductase (NADPH2)

Associated data