Genetic risk factors and miscarriage

Influence of Genetic Factors

Genetic disorders are one of the main causes of pregnancy failure, especially in early pregnancy. Miscarriage can be associated with chromosomal abnormalities in the parents, defects in individual genes, X chromosome lesions, and other genetic pathologies.

Internal and External Risk Factors

Miscarriage is a natural reaction of the body to an unfavorable development of the fetus, to health issues of the woman, as well as to the impact of external and internal factors.

External Risk Factors:

• Unfavorable environmental conditions;
• Exposure to toxins and radiation;
• Chronic stress;
• Harmful habits (smoking, alcohol, and drug use);
• Nutrition deficiencies;
• Sudden lifestyle changes.

Internal Risk Factors:

Genetic mutations that affect blood coagulation, hormonal balance, and the vascular system can significantly increase the likelihood of miscarriage.

Genetic Mutations that Increase the Risk of Miscarriage

• F2 Gene Mutation (prothrombin). This gene regulates blood coagulation. Excessive prothrombin production increases the risk of thrombosis, which can disrupt blood supply to the placenta and lead to fetal delay or miscarriage. The mutation can be diagnosed by PCR analysis or DNA sequencing.
• MTHFR Gene Polymorphism. Disrupts homocysteine metabolism, damages blood vessels, and promotes blood clot formation.
• ACE Gene Polymorphism. Regulates blood pressure and increases the risk of eclampsia.
• F5 Gene Polymorphism (Leiden factor). Disrupts anticoagulation processes, increases the likelihood of thrombosis in the placenta, and late miscarriages.
• F13 Gene Mutation. Controls the production of fibrinase. If this gene is mutated, the enzyme may be produced in excess, negatively affecting the normal course of pregnancy.
• CYP17 Gene Mutations. Regulates steroid hormone synthesis and, in A2/A2 and A1/A2 genotypes, increases the risk of miscarriage.

Who Should Consider Genetic Screening?

Genetic risk factor screening is recommended for the following individuals:

• Partners with a history of two or more miscarriages;
• Couples whose IVF attempts have failed;
• Women whose pregnancy is complicated (eclampsia, fetal delay, intrauterine fetal death);
• In preparation for IVF;
• In case of hormonal disorders.

Where Should the Examination Be Conducted?

The specialists at the "Natuvitro" clinic will help you determine the genetic risk factors of pregnancy. You can undergo comprehensive research and obtain a consultation with a geneticist.

Couples who have experienced pregnancy termination and unsuccessful IVF attempts at different clinics may undergo detailed genetic diagnostics. Based on the results, the doctor will help choose the best treatment strategy, including the most appropriate IVF option (in vitro fertilization) (IVF with PGT), to increase the chances of successful conception and carrying the child to term.

Even if a couple's IVF attempts have failed, it is not a reason to despair. Our blog contains an article titled “ IVF Attempt Failures: 3 Reasons to Hope,” which details possible reasons for failure, offers advice on how to improve the chances of success, and expert opinions on the next steps.

You can read about other risk factors for miscarriage in our article: Risk Factors for Miscarriage