FertiGenes Test™ Female Infertility is a genetic test for women planning a pregnancy. The test allows for determination of mutations present in the woman’s DNA that could affect the pregnancy and the baby’s health. There is a variety of genes associated with human fertility. Knowledge of a couple’s genetic status can help them specify the prognosis for a natural pregnancy, plan the best possible treatment, reduce the risk of miscarriage and support them in their effort to deliver healthy children.
Panel of genetic tests for women includes:
- Detection of prothrombin G20210A mutation – factor II: Mutation is associated with increased risk of thromboembolic disease, spontaneous miscarriages and other pregnancy pathologies (intrauterine deaths).
- Detection of Leiden mutation – factor V (proaccelerin): Factor V is one of proteins involved in blood clotting. Autosomal dominant factor V mutation, referred to also as Leiden mutation, is one of the most frequent genetic causes of thromboembolic diseases. It also results in increased risk of spontaneous miscarriages and other pregnancy pathologies (intrauterine fetal death in the third trimester). Performance of the test allows estimating the risk of such problems.
- Detection of 2 mutation in the CFTR gene: Detection of this mutation allows to determine changes mainly in respiratory, digestive and reproductive system. In most women changes in reproductive system cause an increase in density of cervical mucus, which hinders sperm migration. Positive result of the test for CFTR in one of the partners indicates the need to test the other partner. Determination who is the carrier of a disease in a couple allows estimation of the risk of having a sick child.
- Detection of polymorphism in MTHFR gene: Detection of polymorphism in MTHFR gene is considered as a risk factor for cardiovascular diseases (thrombosis, ischemic heart disease, atherosclerosis, stroke), neurodegenerative diseases, pregnancy complications, and numerous cancers. Unfavorable variant of the MTHFR gene is a major cause of disorders of homocysteine metabolism leading to fetal defects or even miscarriages. After genetic diagnosis it is recommended to take vitamin B6 and folic acid supplements before planned pregnancy and to continue taking them during pregnancy in order to minimise the possibility of undesired effects.