Barcelona, February 13, 2019 The International Journal of Sciences is publishing the results of the study “Prediction of Recurrent Pregnancy Loss by a New Thrombophilia Based Genetic Risk Score” , led by Dr. José Antonio Páramo, hematologist of the Clínica Universidad de Navarra with the cooperation of the Hospital Universitario Fundación Jiménez Díaz, the IVI-RMA, the University of Valencia, the Instituto de Investigaciones Sanitarias La Fe and the Institut Investigació Biomèdica Sant Pau of Barcelona.

According to Dr. Páramo, “the results of the study confirm the unquestionable role of thrombophilia as a causal factor of recurrent idiopathic (of unknown origin) pregnancy loss.” Along these lines, the main contribution of the study is to validate the predictive and diagnostic value of a genetic test that determines the risk of thrombophilia associated with recurrent pregnancy loss. Furthermore, according to the author, “with this score, the sensitivity has improved a great deal, but new studies are required to progress in establishing strategies that will improve live birth rates.”

The retrospective observational case-control study was carried out by monitoring 180 healthy women with at least one full-term, complication-free pregnancy and no prior pregnancy losses, and 184 women with idiopathic recurrent (two or more) pregnancy losses, with the aim of identifying the risk level of thrombophilia-associated recurrent pregnancy losses.

Recurrent pregnancy losses affect 4% of women of childbearing age, and are a frequent cause of female infertility. In this vein, Dr. Marta Carrera, geneticist and scientific director of GEN inCode states that “the results of the study show that this genetic test is an effective tool to more accurately determine the risk of thrombophilia-associated recurrent pregnancy losses. This information also keeps us from overtreating patients who don’t need thromboprophylaxis.”

Improved detection of at-risk patients

In the study, the results of the new clinical-genetic risk score were analyzed, and compared with classical thrombophilic variables (Factor V Leiden and Prothrombin G20210). One of the main findings confirmed that Thrombo inCode Reproductive Health is significantly better at identifying women with high risk of recurrent thrombophilia-related pregnancy losses.

Through the analysis of classical thrombophilic variants, Factor V Leiden and Prothrombin G20210, only 11% of patients with recurrent pregnancy losses were classified as high-risk. Overall, study results confirmed that the Thrombo-inCode Reproductive Health clinical-genetic risk score is more “accurate” than the Factor V Leiden and Prothrombin G20210 variants to identify women with high risk of recurrent thrombophilia-related pregnancy losses. According to the study, up to 50% of patients presenting recurrent idiopathic (of unknown cause) pregnancy losses could be candidates to receive preventive therapy (with low-molecular weight heparin).

The Thrombo inCode Reproductive Health genetic test to determine thrombophilia risk consists of a simple procedure. It is performed with a saliva or blood sample taken from the patient.

Thrombophilia and recurrent pregnancy losses

The incidence of recurrent pregnancy loss in women of childbearing age is 4%. It can be attributed to a number of causes: genetic causes, anatomical or endocrinological factors, clotting disorders, and certain types of thrombophilia. Any placental vascularization anomaly can trigger the appearance of gestational complications, among them, recurrent pregnancy losses.

Hereditary thrombophilia refers to a number of genetic alterations that increase the risk of thrombosis and stroke, and have been related with diverse obstetric vascular complications: pre-eclampsia, stillbirth, intrauterine growth restriction, etc. In the case of recurrent pregnancy loss, a number of studies indicate that hereditary thrombophilia is one of the causal factors.

About GEN inCode

Gen inCode is a biotechnology company with expertise in personalized medicine. It aims to offer genetic tests (such as Thrombo inCode Reproductive Health, among others) combined with clinical recommendations, validated by scientific and clinical experts, that help the doctor manage their patients, and individuals to achieve maximum involvement in their own health care.

Gen inCode’s portfolio features products for prevention, diagnosis and treatment in the areas of cardiovascular prevention, hypercholesterolemia, thrombosis, reproductive health and family-based heart disease.