Sponsored by Organon. Visit FertilityJourney.com for infertility resources and information.
Jennifer "Jay" Palumbo is a writer, public speaker, infertility advocate, author of the blog "The 2 Week Wait," and a proud in vitro fertilization (IVF) mom of 2 boys. This article is based on her own fertility journey.
Fertility can be impacted by many different things – your diet, your age, how healthy you are, whether or not you smoke – but what about your DNA?
According to The Centers for Disease Control and Prevention (CDC), 6.7 million women in the United States are unable to have a child – that’s about 11% of the reproductive-age population. When I was going through my own journey, I wondered why some couples had trouble conceiving while others seemed to get pregnant easily. I questioned whether my fertility challenges might have been predetermined by my genes. You may be asking yourself the same thing. I came to learn that understanding why infertility affects some people and not others is complicated.
To understand the role genetics may play in determining fertility, I talked to Dr. Eduardo Hariton, a reproductive endocrinologist specializing in treating infertility. Here's what he had to say.
A photo of Eduardo Hariton, MD, Reproductive Endocrinologist
What Exactly Causes Infertility?
First off, Dr. Hariton confirmed there's no "one-size-fits-all" cause for infertility. It can have different roots, sometimes even more than one, so it’s not always easy to pinpoint the exact reason why any one person is having trouble conceiving.
Some of the most common causes of infertility include reproductive health problems, such as trouble with ovulation, poor quality or low quantity sperm, hormonal imbalances, and underlying medical conditions like thyroid disorders or even some autoimmune diseases.
Low levels of thyroid hormone can interfere with the release of an egg from your ovary (ovulation), which impairs fertility. In addition, some of the underlying causes of hypothyroidism — such as certain autoimmune or pituitary disorders — may impair fertility.
Lifestyle factors can also play a role. Smoking, drinking excess alcohol, and high stress have also been shown to contribute to infertility. Age is another major factor, as fertility declines for both men and women as they get older.
And in some cases, infertility may be affected by genes.
The Genetic Link Between Your DNA and Infertility
According to Dr. Hariton, there are several known genetic causes of infertility in males and females, including:
- Chromosomal abnormalities can cause infertility in both males and females. For example, Turner syndrome, which is caused by a completely missing or partially missing X chromosome in females, can cause infertility.
- Genetic abnormalities, some of which can cause infertility in males and females. For example, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause cystic fibrosis, leading to male infertility due to an absence of the vas deferens (sperm duct).
- Klinefelter syndrome, a genetic condition in which males have an extra X chromosome. This can cause infertility due to reduced sperm production.
- Y chromosome deletions that can cause infertility in males by reducing or eliminating sperm production.
Dr. Hariton also shared that it's worth noting that infertility often can’t be narrowed down to one specific cause and can be caused by a combination of factors with genetics, including environmental factors and lifestyle factors.
If you’re concerned about infertility, Dr. Hariton emphasized that it's important to speak with a healthcare provider who can administer the right testing to help determine any potential underlying causes so you can work together on an appropriate treatment plan.
Common Infertility-Related Conditions With Potential Genetic Components
In addition to the genetic root causes of infertility, Dr. Hariton shared that infertility diagnoses may have underlying genetic components, including:
- Polycystic ovary syndrome (PCOS), a hormonal disorder that affects the ovaries and can cause infertility in women. While the exact cause of PCOS is unknown, it does run in families, which suggests genetics may play a role in its development.
- Endometriosis, a condition in which tissue similar to the lining of the uterus grows outside the uterus. This can cause pain and infertility. Evidence suggests that genetics may play a role in the development of endometriosis.
- Premature ovarian failure (POF), a condition in which the ovaries stop functioning properly before the age of 40, which can cause infertility. A variety of factors, including genetics, can cause POF.
- Male infertility causes are often varied but can stem from types of genetic disorders. Primary known genetic causes are congenital, including cystic fibrosis gene mutations and chromosomal abnormalities.
According to Dr. Hariton, if someone in your immediate family has been diagnosed with an infertility-related condition such as PCOS or endometriosis, it can increase the likelihood that you may have similar issues. However, he noted that not all cases of these infertility-related conditions are inherited.
If you’re concerned about your risk of developing an infertility-related condition due to your family history, Dr. Hariton recommends speaking with a healthcare provider who can help assess risk and devise a plan for monitoring and managing any potential concerns.
When to Consider Genetic Testing
If you are having trouble conceiving and/or experiencing recurrent miscarriages it may be caused by underlying genetic issues, according to Dr. Hariton. He highly recommends that you speak to your doctor, preferably a reproductive endocrinologist specializing in trying to conceive and pregnancy loss.
A reproductive endocrinologist may recommend genetic testing depending on your health history, blood work, ultrasounds, and reproductive background. To prepare, it is helpful to familiarize yourself with the tests, conditions, and concerns you may have so you can collaborate with your doctor on how best to proceed.
For example, a genetic test that can be conducted after recurrent miscarriages is Preimplantation Genetic Testing for Aneuploidy (PGT-A). Through in vitro fertilization (IVF)-created embryos, PGT-A can help identify embryos with abnormal chromosomes that can lead to certain genetic disorders or miscarriage. By identifying these abnormalities early on, the healthiest embryos may be identified and transferred – and the chances of a live, healthy birth may increase.
Separately, if you have a family history of a genetic disorder or a known risk factor for a genetic condition, genetic testing can provide valuable information about the potential likelihood of passing the disease on to offspring. Fertility specialists may therefore recommend pursuing carrier screening before conception.
What Are Carrier Screenings and How Do They Work?
According to Dr. Hariton, carrier screening is a type of genetic testing that can identify individuals who are carriers of a genetic disorder. Carriers are typically healthy and do not show symptoms of the disorder, but they can still pass the mutated gene on to their offspring.
Carrier screening tests usually involve a blood or saliva sample and can be performed on individuals planning to have children or on pregnant women who want to know their risk of having a child with a genetic disorder. If both partners are carriers of the same congenital disease, genetic counseling should be offered, and in some cases, they may choose to pursue options such as pre-implantation genetic testing for monogenic/single gene disorders (PGT-M) or prenatal diagnosis to help reduce the risk of having a child with the disorder.
Understanding the Role of Genetics in Infertility May Help You Reach Your Family Planning Goals
Trying to align your family planning goals with the options you have available while also taking on the potential challenges of infertility can be stressful and frustrating. Navigating the connection between your genetics and fertility can also be intimidating to try and figure out what tests are right for you – but as a first step, reach out to your healthcare provider for more information and direction.
This article is sponsored by Organon. Visit FertilityJourney.com for infertility resources and information.