The World Health Organization says that fertility problems impact one in six people. There are many potential variables and causes of infertility. Are genes one of them? In this blog, we consider if and how genetic factors and family history affect fertility.

Read our blog, How Common is Infertility?

Are There Genetic Causes of Infertility?

Research tells us that while environmental factors and family history play a role, nearly 50% of infertility cases are because of genetic defects. Frustratingly, the specific genetic abnormalities that affect fertility remain unknown, largely due to the sheer number of possibilities. There are many genes that need to be studied.

More than 2,300 genes are expressed in the testis alone, hundreds of which could potentially contribute to fertility challenges!

Presently, there are only a few genes/genetic defects that have been shown to be involved with primary infertility (meaning the couple hasn't been able to get pregnant after at least one year of consistent and unprotected sexual intercourse).

This is why it can be so hard to pinpoint genetic causes of infertility. However, we know that genetic disorders that can manifest as male or female infertility include Kartagener's syndrome, myotonic dystrophy, Noonan syndrome, Fanconi anemia, sickle cell anemia, and fragile X syndrome.

Premature menopause (also called primary ovarian insufficiency or POI), cystic fibrosis, polycystic ovary syndrome (POS), Turner syndrome, Tay-Sachs disease, and Kallmann syndrome can all hurt fertility. Klinefelter syndrome almost always leads to male infertility.

Fortunately, science is making progress! Every year, roughly 10 to 15 new types of genetic testing are available that can help determine the specific genes causing an individual's infertility.

Let's talk about genetic testing next.

How Does Genetic Testing Work?

Generally speaking, genetic testing involves testing a sample of blood, skin, hair, amniotic fluid (which surrounds a fetus during pregnancy), or other types of tissue to look for DNA changes, chromosomal abnormalities, or protein fluctuations, depending on the purpose of the testing.

If you want to determine if genetic factors are playing a role in your fertility struggles, then your provider might suggest checking for both male infertility and female infertility. Testing for male infertility can mean a simple blood test to look at the hormones and genes, a semen analysis, imaging, or a biopsy to check for a testicular disorder or abnormality.

Infertility testing may involve comprehensive testing beyond genetic factors. For example, for female infertility, your provider might recommend thyroid testing, ovulation testing, imaging, and other hormone tests, to name a few examples. You might also benefit from a fertility tracking panel.

Depending on your situation, there are other types of testing to further explore potential genetic issues. For example, preimplantation genetic testing (PGT) identifies chromosomal abnormalities in embryos resulting from in vitro fertilization (IVF) before they're implanted.

Can Genetic Counseling Help?

Yes! Genetic counseling offers insight into how genetic conditions might be affecting you and your family. Through the study of genetics, a genetic counselor will identify any gene mutations, genetic diseases, or other possible hereditary issues that are making it difficult for you or your partner to become pregnant.

What Do Fertility Treatments Look Like?

If you and your partner are struggling with fertility challenges, your provider or genetic counselor may recommend fertility treatments. There are various kinds of assisted reproductive technology (ART), including intrauterine insemination (IUI) and IVF, which are two of the more common types. Cryopreservation, surrogacy, and egg/embryo donation are also options.

What Environmental Factors Can Hurt Fertility?

While not the focus of this blog, we'd like to briefly touch on environmental factors that can impact fertility. Factors that could lead to an increased risk of infertility include obesity (or being underweight), strenuous physical labor, taking multiple medications, substance use, high blood pressure, radiation therapy, chemotherapy, and exposure to pollution.

How to Support Fertility

If you're having a hard time getting pregnant, it's important you see a provider who specializes in reproductive medicine to learn more about the health of your reproductive system and determine any environmental or genetic causes. Ask them about lifestyle changes you can make to better support your fertility. These may include:

• Achieving and maintaining a healthier weight.

• Quitting drinking and smoking.

• Finding healthier ways to cope with stress.

• Limiting caffeine.

• Eating a more well-rounded diet.

• Exercising consistently but safely.

While the causes of infertility are numerous and not fully known, there are qualified medical professionals who can better help you identify any potential genetic causes of infertility, like chromosomal abnormalities, that could be making it harder for you to get pregnant. In addition to looking into possible genetic issues, they can also recommend lifestyle changes that could help you.

Explore Fertility Tracking Today

eNational Testing's fertility tracking panel quantifies two of the most common fertility measures: progesterone and antimullerian hormone (AMH), the latter of which offers insight into your overall ovarian health, corresponding to your egg count.

We have more than 2,000 locations across the United States, so you never have to go far to find us. Our panel is a simple blood test that delivers results in four to 10 business days. After you've received your results, you can follow up with one of our clinicians for further guidance.

Fertility tracking can help you identify potential health conditions that might be negatively impacting your pregnancy journey. Don't forget, too, that your partner might benefit from testing that looks at sperm production and other possible causes of infertility. Female and male fertility are both equally common, so both partners should learn more about their reproductive health and any specific genetic disorders.

If you think that a genetic component might be contributing to your infertility issues, start fertility tracking or speak to a specialist today.