Understanding Infertility Through Genetic Testing

The Global Impact and Causes of Infertility

Infertility is a disease of the reproductive system defined by the inability to achieve a clinical pregnancy after 12 months or more of regular, unprotected sexual intercourse. Globally, over 48.5 million people are affected by infertility. Approximately, 1 in 6 couples worldwide face infertility, while in developing countries, the infertility rate is even higher, affecting 1 in 4 couples. It is widely known that infertility can be influenced by lifestyle factors as well as environmental influences. However, a significant number of infertility cases are attributed to genetic causes.

Infertility in Men and Women

Infertility affects both men and women. In approximately 45% of cases, infertility is due to female factors, and in 35% of cases, it is due to male factors. The remaining cases are due to problems in both partners or have an unexplained etiology.

Diagnostic Timeline for Infertility

A diagnostic timeline for couples facing delays in achieving pregnancy starts with biochemical laboratory and imaging tests that identify up to 65% of the causes of infertility. These tests include blood and urine tests to check hormone levels, thyroid function, sperm count and morphology, as well as ultrasounds to detect any structural abnormalities.

The Role and Benefits of Genetic Testing

If biochemical and imaging tests fail to identify the causes of infertility, genetic testing may be recommended to determine whether a genetic mutation is related to the couple’s inability to conceive. Genetic mutations can cause specific disorders, leading to changes in hormone levels, such as ovulation disorders, poor response to fertility treatments, premature ovarian failure, or polycystic ovary syndrome. Infertility may also be caused by translocation (misarrangement of chromosomes) in one of the partners or due to a combination of causes. Genetic testing can also determine the risk of passing on genetic mutations to the offspring, which could cause similar infertility problems in them. In such cases, preimplantation genetic testing may be suggested to avoid the increased likelihood of the offspring facing the same fertility challenges.

Innovative Genetic Tests for Infertility

Innovative genetic tests that simultaneously investigate multiple genes can reduce diagnosis time and be more cost-effective than single-gene tests. Genetic testing for female infertility detects mutations in genes associated with primary ovarian insufficiency, polycystic ovary syndrome, and hypogonadotropic hypogonadism, which are among the most common causes of female infertility. Women with primary ovarian insufficiency can benefit from early detection through genetic testing, as they may preserve their fertility by choosing to collect their eggs at a younger age. Genetic testing for male infertility has become increasingly important in recent years, as guidelines have been issued by international organizations. The American Society for Reproductive Medicine recommends that Y chromosome analysis be offered to men with non-obstructive azoospermia or severe oligospermia before proceeding with intracytoplasmic sperm injection (ICSI), a specialized assisted reproductive technology procedure. Treatment options are determined by the microdeletions detected through genetic testing, as sperm extraction from the testes can be beneficial for specific genetic changes, while for others, the prognosis is less favorable.

Treatment Options Based on Genetic Testing

Depending on the cause of infertility, appropriate treatment or clinical management may be selected. Fertility treatments, such as ovulation medications, hormone therapies, in vitro fertilization (IVF), or surgical procedures, may be necessary to optimize the chances of a successful pregnancy.

Conclusion

Infertility is a disease that needs to be identified most accurately so that clinicians can provide the most appropriate clinical management and treatment. Infertility genetic testing can be crucial for a significant number of individuals who wish to start a family but struggle to conceive. Identifying the cause of infertility can help make informed decisions based on accurate and reliable information, specific to each individual or couple.

Medicover Genetics TarCET Kits

Medicover Genetics TarCET kits offer a wide range of reliable and easy to implement genetic testing solutions, providing accurate, fast and cost-efficient detection of genetic variants. The TarCET Infertility Kit analyzes 54 genes in the female infertility panel and 39 genes in the male infertility panel. Structural and numerical abnormalities on sex chromosomes are included in both panels.