London and Barcelona, February 13, 2019 The International Journal of Sciences published the results of the study “Prediction of Recurrent Pregnancy Loss by a New Thrombophilia Based Genetic Risk Score” , led by Dr. José Antonio Páramo, haematologist 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 is also improved, but new studies are required to progress 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. Dr. Marta Carrera, geneticist and scientific director of GEN inCode stated “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 loss. This information also avoids the over treatment of patients that do not 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 the GEN inCode product – Thrombo inCode Reproductive Health is significantly better at identifying women with high risk of recurrent thrombophilia-related pregnancy loss.
Through the analysis of classical thrombophilic variants, Factor V Leiden and Prothrombin G20210, only 11% of patients with recurrent pregnancy loss were classified at high-risk. Overall, the study results confirmed that the GEN inCode product – Thrombo-inCode Reproductive Health risk score was more “accurate” than Factor V Leiden and Prothrombin G20210 variants to identify women with a high risk of recurrent thrombophilia-related pregnancy loss. According to the study, up to 50% of patients presenting with recurrent idiopathic (of unknown cause) pregnancy loss could be candidates to receive preventive therapy (with low-molecular weight heparin).
The GEN inCode product – Thrombo inCode Reproductive Health genetic test to determine thrombophilia risk consists of a simple procedure performed with a saliva or blood sample taken from the patient.
Thrombophilia and recurrent pregnancy loss
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 loss.
Hereditary thrombophilia refers to a number of genetic variants that increase the risk of thrombosis and stroke, and are related to diverse obstetric vascular complications such as pre-eclampsia, stillbirth, intrauterine growth restriction. 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 offers genetic tests (such as Thrombo inCode Reproductive Health) combined with clinical recommendations, validated by scientific and clinical experts, to help health care practitioners to better manage their patients, and empower patients in behavioral change.
The GEN inCode portfolio includes products for prevention, diagnosis and treatment in the areas of cardiovascular, hypercholesterolemia, thrombosis, reproductive health and familial heart disease.