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The Role of Genes and Family History in Fertility

Can genetics have an impact on your fertility? Yes. About 10 percent of couples experiencing infertility in their conception journey have an underlying genetic issue.  

Infertility isn’t a simple issue. Even with a heritable genetic issue, you may not have issues during your fertility journey.

For those with a family member who struggled to get pregnant and are struggling with fertility, certain conditions can be inherited and contribute to infertility. Medical conditions, such as single-gene defects or chromosomal abnormalities, can be hereditary. Both of which can lead to infertility. Confusing? A little bit, but that’s why we're here to explain. 

Read More: Managing Stress & Anxiety During Your Fertility Journey

What should I know about inherited genetics (diseases) and their effects?

Many structural changes can happen by chance (and randomness), but others can be passed down through generations of a family. 

In some rare cases, inherited genetic diseases may impact your fertility. These genetic diseases are due to abnormal mutations (or genes) that affect your reproductive organs. This can lead to other ovulatory disorders.

Your fertility can be impacted by a genetic syndrome like cystic fibrosis (CF) or Fragile X syndrome. These conditions can impact fertility by reducing sperm or premature ovarian failure (POI). 

Conditions like CF or Fragile X usually show other symptoms besides their effects on fertility. If you’re otherwise healthy (with no other symptoms), it's unlikely that you’ll be diagnosed with either. 

Chromosomally abnormal embryos have a lower implantation rate into your uterus. This decrease in the implantation rate will lead to an increase in miscarriages. For men – chromosomal abnormalities can cause low sperm counts and lead to male infertility. To be properly diagnosed, you and your partner need chromosomal testing. Chromosomal testing evaluates the number and structure of your chromosomes to detect abnormalities. 

If a couple is experiencing genetic disorders – using IVF (in-vitro fertilization) with early detection can work as a treatment. 

Read More: What to Know Before You Consider IVF

In couples with a family history of single-gene disorders (and not struggling with infertility), coupling IVF and PGD (pre-implantation genetic diagnosis) can help combat cystic fibrosis and Tay Sachs disease. 

Tay Sachs disease is a rare, inherited disorder that destroys nerve cells in the brain and spinal cord. If two people are carriers have a child, there’s a 1 in 4 chance that the child won’t inherit fault genes (or have Tay Sachs disease). There is a 1 in 2 chance the child does inherit the faulty gene from one parent and becomes a carrier. That child wouldn’t have the condition themselves. 

Now that we got through a lot of the technical, let’s look into what you can do to detect genetic issues. 

What are fertility genetic tests?

A Preimplantation Genetic Test (PGT) helps to find and prevent serious genetic diseases in embryos. PGT can diagnose genetic diseases like sickle cell anemia, Duchenne's muscular dystrophy, and cystic fibrosis. 

A PGT-A test analyzes embryo cells to determine if they have a normal amount of chromosomes. If the sperm or egg cells have an unequal division, it can result in having too many or too few chromosomes. 

Three types of genetic tests include:

  • Molecular tests that look for changes in genes (one or more). A molecular test looks to determine the order of DNA build blocks.
  • Chromosomal tests analyze the whole chromosome and look to identify large-scale changes.
  • Gene expression tests look to see which genes are turned on and off in your different cells. You can determine genetic disorders if there is too much or too little activity.

If my family has (had) trouble getting pregnant, will I?

Your family history won’t be the biggest factor in your fertility. While it may be one, there is a range of others to look at. Several factors, such as PCOS (Polycystic ovarian syndrome), can contribute to it. PCOS is a common cause of ovulation issues (or not ovulating). Your family history can play a role in PCOS, as it does run in families. You could look at your mom – and if she had PCOS, you’re more likely to have it as well. 

Read More: An Essential Guide to Improving Your Fertility Naturally 

Unfortunately, many experts in the field still don’t know what causes infertility in roughly 20% of women. While your family history can be a part of those issues, it likely plays only a tiny role in your ability to conceive. 

It’s difficult to identify specific genetic causes. If a family member like your mom had endometriosis, your risk of having it is 5 to 7 times greater than someone without a family history. Endometriosis is when the tissue that normally lines your uterus grows outside of it. This can affect your ovaries, fallopian tubes, and the tissue in your pelvis. 

If you got diagnosed with POI (premature ovarian failure), an immediate family member was likely also affected. Premature ovarian insufficiency is when your ovaries stop functioning as they should when you reach 40. POI is when your ovaries don’t produce the normal amount of hormone estrogen or release eggs regularly. It’s also commonly known as a premature ovarian failure and can lead to infertility. 

Are there questions I should ask my doctor to understand my fertility genetics? 

It’s always good to raise questions to your OB-GYN if you suspect genetics may be an issue. There is even a specific work-up that your OB-GYN will do if infertility is suspected. This includes medical history, physical examination, and tests to evaluate your structural abnormalities. 

Read More: When to See a Fertility Specialist

Understanding your family history is just another step in understanding your fertility journey. The more you know, the more you can share with your OB-GYN. If genetic testing is recommended, be sure to ask how accurate they are (and if they are product risk or if you’re specifically being diagnosed)—advocate for follow-up tests and available information. 

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