Reproductive Genetics (Gynecology & Urology)

Infertility is one of the most important public health problems in our country and in the world that couples suffer from reproductive problems to have a child.

The evolving role of genetic tests in reproductive medicine helps us to determine the underlying factors of infertility in both males and females.  Beside it includes not only prenatal screening and diagnosis but also encompasses preconception genetic counseling with Assisted Reproductive Technologies (ART) and preimplantation genetic diagnosis (PGD) makes it possible for the couples to have healthy children. 

Another benefit of reproductive genetic testing is by detecting the carrier status of hereditary diseases in the couples who are not aware of and can pass these diseases to other generations. 

How to determine infertility problems? 

Individuals with infertility problems needs a detailed clinical examination by a gynecologist or urologist in advance. After the examination of their reproduction systems,  and the evaluation of their initial findings with imaging tools and biochemical tests , genetic structure of the couples should be analyzed with an appropriate genetic counseling to determine the cause of infertility problems as well as to have a healthy pregnancy period and children. Confirmation of the clinical diagnosis through genetic evaluation (counseling and testing) can lead to more specific and targeted medical management

Is Infertility Genetic? 

It has been estimated that nearly 50% of infertility cases are due to genetic factors. In cases where a genetic problem is thought to be the cause of infertility, it is more likely to reach the diagnosis by performing specific genetic tests. 

In which cases Genetic Tests are used for the infertility? 

Performing genetic tests with standard algorithms without evaluating personal and familial medical histories exhausts people both financially and psychologically and makes it difficult to reach a conclusion in revealing the cause of infertility. Results can be achieved in a short time by conducting targeted genetic tests.

In male infertility; 

• if there are abnormal findings in the semen analysis genetic testing can be used for analyze of semen structure.
• In addition, genetic tests are used in cases of hypogonadism (testicular insufficiency, male sex hormone deficiency). 
• Karyotyping, chromosome analysis of the chromosomes both numerical and structural chromosomal changes are identified 
• Partial changes of other chromosomes, especially sex chromosomes and  Y-Chromosome microdeletions are detected with genetic testing by PCR, MicroArray techniques. 
• In the absence of sperm due to obstruction in channels, which is most commonly  seen in the Cystic Fibrosis disease, the diagnosis is clarified by genetic testing of specific genes for Cystic Fibrosis.  

In female infertility; 

• As in male infertility, chromosome analysis (karyotyping) is the most crucial test to detect the numerical and structural chromosomal changes that effect female fertility. 
• Blood factors and vascular problems can be the most important factors for female infertility. Due that blood clotting factors are analyzed with CVD panels . 
• Primary Ovarian Insufficiency (poi) is one of the biggest cause in female infertility, for the diagnosis FMR1 gene repeat analysis is done. 

However, since there are hundreds of genes (2300 genes only in testis) that may be responsible for infertility in both women and men, single gene analyzes may be insufficient to achieve the correct diagnosis. At this point, the "Infertility Panel" test, in which many genes are screened together with the Next Generation Sequencing method, can be performed as a one step solution. 

In recent years, applications to "Pre-Pregnancy Carriage Screening Programs" have been increased by the couples, for the prevention of diseases. Considering that 20-25% of prenatal pregnancy losses are due to an inherited genetic mutation, with the carrier screening programs the cause of these pregnancy loss is clearly revealed and beside that we can prevent the transmission of a genetic diseases to other generations. 

It is known that beside genetic factors, unhealthy environmental conditions and living conditions are among the factors affecting healthy reproduction and infertility.  As in any disease, A holistic approach is important in the treatment of infertility. 

Advancing parental age, anatomical causes, systemic diseases, infections, trauma, antibody development and genetic causes should be evaluated all together in the infertility problems. Due that, it is very important to get appropriate genetic counseling, to determine genetic risks and to guide the couples correctly during the reproductive decision process.

For more information and for your genetic testing request please contact with us