Inherited thrombophilic states and coexisting chromosomal polymorphisms as a cause of recurrent pregnancy loss. Case series report

Although still controversial, some genetic polymorphisms of prothrombin (FII G 20210A), Factor V (Factor V Leiden, FVL) and methylene tetrahydrofolate reductase (MTHFR, C677T gene variant) genes were strongly associated with recurrent miscarriages, although 50% of RPL remains idiopathic. Genetic polymorphism may impair the MTHFR activity and the related metabolization of food folates and folic acid in 5-MTHF. A carrier of one of the two main MTHFR isoforms (C677T or A1298C) should be supplemented with 5-MTHF rather than folic acid to bypass the bottleneck created by the deficiency of MTHFR. Recent studies also indicate that chromosomal polymorphisms may cause certain clinical effects, such as infertility and spontaneous miscarriage. We present two patients with RPL, successfully treated through restorative reproductive medicine obtaining a healthy live birth and an ongoing 19week pregnancy, both diagnosed inherited thrombophilic disorders and coexisting chromosomal polymorphisms as a cause of recurrent pregnancy loss in Peru. Parental karyotyping and screening for hereditary thrombophilia should be conducted in RPL patients, in order to define a more precise prognosis and treatment from a “patient centered” perspective to RPL women/couples being treated in a restorative reproductive approach. More research needs to be conducted in women/couples with RPL presenting chromosomal polymorphisms and hereditary thrombophilia.