Frecuencia de marcadores genéticos para trombofilia en mujeres con fertilización in vitro fallida

When in vitro fertilization (IVF) fails, etiopathologic study is delayed. Genetic mutations, which predispose to thrombophilia, must be determined as these may interrupt implantation and trophoblastic development. Objective: To describe the incidence of genetic markers for thrombophilia in patients in whom IVF has failed. Material and methods: Genetic markers for thrombophilia were determined in twenty women in whom IVF was unsuccessful. Numerical and categorical variables were determined and summarized as median and interquartile range, represented in frequencies and percentages. Results: The mean age was 34 (3237) years, with 2 (1-4) failed IVF cycles. Positive markers were reported in 95%, with 85% carrying two or more mutations. The most frequent mutation was hyperhomocisteinemia, present in 90%, followed by PAI 1 in 80%. The mutations were heterozygous in 70% and homozygous in 30%. Conclusions: The reported correlation between genetic markers for thrombophilia and failed IVF is of 20-68%. Our results show that the frequency and type of mutation differs from what has been previously published for other study groups. The causal relationship and secondary implications are enough to suggest the need for more studies, diagnostic measures and early therapeutic options.