Is Infertility Genetic?

Approximately 10 to 15 percent of couples experience infertility, with more than half of these cases being due to an underlying genetic issue. In these instances, the genetic cause could have been inherited. However, infertility is a complex condition, and most cases are not due to a known inherited cause. Both female and male factors account for approximately 1/3 of all cases of infertility each. The remaining 1/3 of cases of infertility are due to either unknown causes or a combination of both male and female factors.

Preconception or prenatal genetic counseling at Genome Medical can help you understand the potential causes of your infertility, and can help guide you through your reproductive journey. Genome Medical is a nationwide practice of genetic experts that can assess your concerns regarding your fertility, and discuss the potential benefits of genetic testing. A Genome Medical genetic counselor will interpret your personal reproductive and family history, and make recommendations.

The Genome Care Navigator™ empowers you to be more genetically aware so you can make more informed decisions about your reproductive journey. Through a self-navigated education session, you’ll gain faster, more direct access to genetic experts, who will assist you in further reviewing genetic testing options.

Learn more about genetic testing and pregnancy.

Genetic Disorders That Cause Female Infertility

Female infertility can have multiple causes, including hormone changes, issues with ovulation, endometriosis or structural changes of the reproductive system. Additional components may influence female infertility, including age, exposures, weight, or a history of sexually transmitted diseases. Lastly, genetics are known to contribute to approximately 10% of female infertility.

Certain genetic factors that impact female infertility include an inherited chromosome change or a single-gene variant passed from parent to child. In addition, if there is a family history of certain medical conditions, such as early menopause or endometriosis, an individual may be at increased risk to have the same health issues as well.
Specific genetic conditions and chromosome issues that may cause female infertility include:

• Turner Syndrome: Individuals with Turner syndrome are either partially or completely missing 1 copy of their X chromosome, and therefore are susceptible to ovarian insufficiency.
• Fragile X-Associated Primary Ovarian Insufficiency (FXPOI): — Women that are carriers of Fragile X syndrome (FX), which is a genetic change on one of the X chromosomes, are at increased risk to have primary ovarian insufficiency (POI), which occurs when the ovaries stop functioning normally before the age of 40. Not only does this impact fertility, but carriers of Fragile X syndrome are also at increased risk to have children with intellectual disabilities associated with inheriting Fragile X.
• Congenital Adrenal Hyperplasia (CAH): CAH is a genetic condition that affects both women and men. For women with CAH, changes in the adrenal gland can cause hormone imbalances, which can lead to changes in menstrual cycles affecting fertility.
• Chromosome rearrangements: Individuals that carry chromosome rearrangements have an increased chance to pass down too much or too little chromosomal material, which could impact the ability to conceive a pregnancy, increase the risk of pregnancy loss, or result in offspring with birth defects or intellectual differences.

Genetic Disorders That Cause Male Infertility

Male infertility can be caused by low sperm production, abnormal sperm function or blockages that prevent the delivery of sperm. Other factors, such as chronic illnesses, injuries, lifestyle choices and genetics may also contribute to male infertility. Genetics are known to contribute to approximately 15% of male infertility.

Specific genetic conditions and chromosome issues that may cause male infertility include:

• Klinefelter syndrome (KS): Individuals with Klienfelter syndrome have an extra X chromosome (XXY). This can lead to lower production of testosterone, resulting in little or no sperm production.
• Kallman Syndrome: Individuals with Kallman syndrome are unable to produce certain hormones that can impact sexual development and lead to infertility.
• Cystic fibrosis (CF): Cystic fibrosis is an inherited condition that affects the lungs and digestive tract, however a few specific genetic changes in the gene for CF can affect male fertility by impacting the development of the vas deferens, which would not allow for sperm to be transported.
• Y chromosome microdeletions: Individuals that are missing areas of their Y chromosomes, which contains genes that are involved in the growth and development of sperm, may have little or no sperm production.
• Chromosome rearrangements: Individuals that carry chromosome rearrangements have an increased chance to pass down too much or too little chromosomal material, which could impact the ability to conceive a pregnancy, increase the risk of pregnancy loss, or result in offspring with birth defects or intellectual differences.

How Can I Check My Fertility?

Infertility is most often defined as the inability to get pregnant after one year of frequent unprotected intercourse when the female is under 35, and 6 months if the female is over 35. If you have questions regarding your fertility, you may want to discuss your concerns with your clinician. If you’re a female over 35, learn more about the available genetic testing options for pregnancy over 35. The American College of Obstetricians and Gynecologists (ACOG) recently published guidelines regarding the initial work-up that should be performed by your doctor if infertility is suspected. For females, this workup includes obtaining a medical history, physical examination, and additional tests that evaluate ovarian reserve, ovulatory function, and structural abnormalities. Evaluation for males with infertility would include a thorough medical history, physical exam, semen analysis, blood work, and possibly ultrasound exams.

Men and women interested in learning about underlying causes to their infertility may want to pursue genetic testing. Genetic testing is often recommended as part of the fertility evaluation, especially prior to undergoing any fertility treatments.

Types of genetic testing for females experiencing infertility:

• Genetic carrier screening (including the gene for Fragile X syndrome): Genetic carrier screening analyzes a person’s DNA (by blood/saliva/buccal swab) to see if they are a carrier for many genetic conditions at once. Carrier screening can identify individuals and couples at risk to have a child with a genetic condition. Many carrier screening panels include the gene for Fragile X, as well as other genes that could impact fertility.
• Karyotype: A blood test to analyze the number and structure of one’s chromosomes. A karyotype can detect Turner syndrome and chromosome rearrangements.

Types of genetic testing for males experiencing infertility:

• Genetic carrier screening (including the gene for cystic fibrosis): Genetic carrier screening analyzes a person’s DNA (by blood/saliva/buccal swab) to see if they are a carrier for many genetic conditions at once. Carrier screening can identify individuals and couples at risk to have a child with a genetic condition. Many carrier screening panels include the gene for cystic fibrosis as well as other genes that could impact fertility.
• Karyotype: A blood test to analyze the number and structure of one’s chromosomes. A karyotype can detect Klinefelter syndrome and chromosome rearrangements.
• Y chromosome microdeletion studies: A blood test to target if specific regions of the Y chromosome that impact sperm development are missing.

Additional genetic testing may be offered based on one’s personal medical and family history. Learn more about how you can test for infertility.

The Genome Care Navigator™ empowers both males and females to be more genetically aware so they can make more informed decisions about their reproductive journey. Through a self-navigated education session, you’ll gain faster, more direct access to genetic experts, who will assist you in further reviewing genetic testing options.

Get more information on preconception genetic testing while you are starting to build your family.