Which are the most common thrombophilic genetic nucleotide polymorphisms in infertile women undergoing an IVF cycle?

Thrombophilia is considered one of the causes of infertility, especially after repeated failures of IVF techniques. The aim of this work is to evaluate the incidence of thrombophilia in women who underwent IVF cycles and assess the outcome of the techniques.

In vivo study. The study sample was composed of 262 women undergoing a fresh cycle of in vitro fertilization (IVF) cycle of Intracytoplasmatic Sperm Injection (ICSI) from July 2012 to December 2014 in the Center of Physiopathology of Human Reproduction. Amongst these patients, we have selected 96 patients with indication for thrombophilia screening.

Thrombophilia screening detects that only 8% (n = 8) of the patients was negative to all the studied mutations, while the remaining 92% (n = 88) was positive to at least one mutation. The most common mutations were MTHFR gene (C677T) (91,84%), ACE gene (54,88%) and PAI-1 gene (69,44%).

Our results showed an increased frequency of genetic nucleotide polymorphisms in women reporting failures in IVF techniques. Differently from scientific literature data, in our work, the most frequent mutation affects the enzyme gene MTHFR, particularly the C667T mutation; on the other side, mutations of factor V and II are less common.