What Is Genetic Testing & What Is It Used For?

Genetic testing is a rapidly growing field in the treatment of male infertility. Genetics can play a major role in couple's ability to get pregnant and maintain a healthy pregnancy. Some estimations state that 10 percent of infertility and miscarriages are caused by genetic defects. Genetic testing can help determine whether infertility is caused by genetic defects, instead of structural (such as obstructions) or functional (such as impotence) abnormalities. Knowing this allows you to make a more appropriate decision regarding which infertility treatments you will receive.

Why is Genetic Testing Beneficial? 
Genes are encoded in your genetic material or DNA (deoxyribonucleic acid). DNA caries all the information needed for the development and functioning of all living organisms, and defects in certain genes can result in illnesses and disorders. Testing your DNA is helpful if other infertility tests have not found a cause for your infertility, or if your current infertility treatment is not working.

Prevent the Passage of Inheritable Diseases 
Genetic testing is especially recommended if you or your partner have a family history of inherited diseases such as Tay-Sachs disease, Huntington's disease, or cystic fibrosis. DNA testing informs you and your partner what probability, if any, you have of conceiving a child with a genetic disorder. Note that being a carrier of a gene that causes a genetic disorder does not necessarily mean your child will have that disorder. A fertility procedure that can help prevent passing on a hereditary disease is called preimplantation genetic diagnosis (PGD). PGD screens embryos for chromosomal abnormalities during an IVF procedure so that only the healthy embryos will be considered for implantation into the woman's uterus.

Although genetic testing may identify the cause for infertility, or even the underlying risk of having a child with a genetic disorder, getting a DNA test done can be a difficult decision. You and your partner should discuss beforehand what the consequences of hearing negative “news” would be. 

Genetic Testing in Southern California (San Diego) 
Following the human genome project, genetic testing has now become an explosive area of research. If has taken on new prominence and direction; becoming one of the most rapidly expanding areas within the treatment of male infertility.  Karyotyping, Y microdeletion analysis testing, and cystic fibrosis test are the three genetic tests that are most commonly used in the infertile male.

Karotyping looks at genes holistically. A picture is taken to determine if there are any abnormalities in the structure of the genes: this can include missing, extra, or irregular positioning of chromosomes in cells. The most common disease found by karyotyping is Klinefelter syndrome. Men affected by this syndrome are often infertile or have reduced fertility, which may be passed on to children.

Y microdeletion analysis testing looks for missing genes in the Y chromosome, which can lead to oligozoospermia,  very low sperm count, or azoospermia, complete lack of it. Y chromosomal microdeletions have been identified as one of the causes of male infertility, so it is essential that testing be done prior to undertaking any assisted reproductive techniques.

More than ten million people are diagnosed with cystic fibrosis without showing any symptoms. Most men afflicted by cystic fibrosis - a staggering 97% - are considered infertile. The main cause of male infertility is the absence of vas deferentia, the two ducts that transport sperm from the testicles to the penis. However, men with cystic fibrosis can have children with the use of assisted reproduction. Both male and female partners should be tested because if both are carriers, there is a 25% chance that their child will have cystic fibrosis. Such genetic tests are essential for couples who are at risk of inherited genetic diseases. 

In San Diego, Dr. Bastuba and his staff will review the results, discuss them with you and make a diagnosis. If any of the tests are positive, Dr. Bastuba will recommend fertility options, as well as visiting a genetic counselor.

For more information on testing for male infertility or to learn more about genetic testing options in Southern California, contact Male Fertility & Sexual Medicine Specialists.