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Genetic testing for infertility

Approximately 1 out of 6 every people worldwide will experience infertility during their reproductive lifespan. We know lifestyle and medical history can contribute to fertility issues — but what about your genes? Genetic testing is one way to explore the root cause of infertility, as well as detect genetic conditions that prospective parents might pass down to their future children.

This article will cover the genetic tests that are available today, genetic diseases that contribute to female-factor and male-factor infertility, and the benefit of early genetic testing during pregnancy or while trying to conceive. 

What kind of genetic testing might I do before trying to conceive?

Genetic testing is the process of examining the DNA inside cells, such as blood, skin, or embryonic cells, to identify mutations that may be associated with disease.

Genetic testing during pregnancy or before trying to conceive can detect some fertility-related gene mutations, as well as conditions that may impact the success of assisted reproductive techniques. If an individual is already having symptoms of a suspected condition, such as Klinefelter syndrome or Turner syndrome — which can both interfere with fertility — a genetic test can confirm a diagnosis. This confirmation can then help doctors make a plan for treatment.

Genetic testing can also identify heritable conditions which may be passed to offspring if pregnancy is achieved. “Carrier testing” is a type of genetic testing that determines whether someone carries a gene that can cause a genetic disorder such as cystic fibrosis. This can be especially important if they have a family history of a genetic disorder or if they belong to an ethnic group that is predisposed to a genetic disorder.

Genetic testing before pregnancy can be particularly useful. If both parents carry certain genetic mutations, they may choose to use in vitro fertilization (IVF) with preimplantation genetic testing on the embryo. During preimplantation testing, embryos created with IVF are screened for genetic abnormalities and/or specific genetic mutations, to ensure a couple is transferring the healthiest possible embryos.

Genetic disorders that contribute to male-factor infertility 

Though age, diet, lifestyle, and hormones can all contribute to male-factor infertility, in some cases, genetics are to blame. Symptoms of male-factor infertility will vary according to the genetic disorder at fault, ranging from little body hair to weight gain, in addition, of course, to trouble conceiving.

Here are some of the genetic conditions that can contribute to male-factor infertility, and can be identified through genetic testing for infertility:

Klinefelter syndrome and male infertility

Klinefelter syndrome is a genetic condition in which a male individual has an extra copy of the X chromosome. Instead of the typical XY sex chromosome, theirs is XXY. People with Klinefelter have typically male genitals and reproductive systems, but experience hormonal and fertility issues as a result of their genetics. This isn’t an “inherited” condition, but is instead a random genetic mutation.

People with Klinefelter syndrome often have azoospermia, a condition in which there is no sperm in the ejaculate. They may also experience poor testicular growth and low testosterone levels, which both negatively impact fertility. Other symptoms include:

  • Low sex drive
  • Decreased body hair
  • Lower muscle mass
  • Increased belly fat

However, many people don’t know they have Klinefelter syndrome until they’re trying to conceive and discover azoospermia through a semen analysis.

Testing for Klinefelter syndrome requires a chromosome analysis called a karyotype analysis. Karyotype analysis is a type of genetic testing that looks at your 23 chromosome pairs to ensure they’re normal. Prenatal testing can also reveal a Klinefelter diagnosis in utero.

A person with Klinefelter syndrome may consider testicular sperm extraction (TESE), hormone supplementation, or medication to increase their chances of fertility. 

Learn more about Klinefelter syndrome.

Kallmann syndrome and male infertility

Kallmann syndrome is a genetic disorder that causes hypogonadotropic hypogonadism (HH). This means that very little sex hormones (like testosterone) are produced, resulting in delayed or absent puberty. Kallmann syndrome is typically diagnosed around the time of puberty and can affect females as well as males.

Common symptoms of Kallmann syndrome in males include:

Genetic testing for Kallmann syndrome looks for specific gene mutations to indicate the condition. Doctors may also order blood tests to examine hormone levels. Magnetic resonance imaging (MRI) of the hypothalamus, pituitary gland, and nose can also detect anatomical abnormalities pointing to the syndrome.

Cystic fibrosis and male infertility

Studies show that 97–98% of men with cystic fibrosis are infertile because of abnormal development of the vas deferens. The vas deferens is the tube that carries sperm from the testicles to the penis, so without it, natural conception is impossible. Some people who carry just one copy of the CF gene mutation, known as cystic fibrosis carriers, may also have fertility issues.

There are over 1,000 mutations related to cystic fibrosis. A simple blood genetic test can identify the most common of these in a CF carrier. Though carriers may have no symptoms, they can still pass the CF gene mutation on to their children. If both parents are carriers, there’s a 1 in 4 chance that their child will have cystic fibrosis. Genetic testing during pregnancy or before trying to conceive can help detect this.

Sperm DNA fragmentation-why the genetic health of sperm is important

Y-chromosome microdeletions and male infertility

Y-chromosome microdeletions refers to a family of genetic disorders caused by missing genes in the Y-chromosome. These conditions impact sperm production and may lead to low sperm count, azoospermia, and a high percentage of abnormal sperm.

Except for infertility and, in some cases, small testes, there are no symptoms associated with these disorders. Therefore y-chromosome microdeletions can be difficult to detect. Genetic testing along with a semen analysis can lead to a diagnosis, helping individuals conceive with the help of assisted reproduction. 

Other chromosome rearrangements affecting male fertility

Y-chromosome microdeletion is a type of “chromosome rearrangement,” in which pieces of chromosomes are missing or in the wrong place.

Some males with azoospermia, oligopermia (low sperm count), or abnormalities involving sperm morphology or motility have been found to have other chromosome rearrangements. These anomalies may involve the sex chromosomes or other chromosomes.

Chromosome rearrangements can be found through genetic testing for infertile men. Besides infertility, low testosterone levels may be an indication of chromosome rearrangement.

Genetic disorders that contribute to female infertility 

Like male-factor infertility, genes — along with age and hormones — can play a role in female infertility. These are the most common genetic disorders that contribute to female infertility:

Turner syndrome and female infertility

Turner syndrome is a genetic disorder in which a female has only one normal X sex chromosome instead of the usual two. The condition affects about one in every 2,000 newborn females and occurs randomly in utero.

Turner syndrome is typically diagnosed through a karyotype test around puberty. Symptoms include:

  • Absent puberty
  • Short stature
  • Underdeveloped ovaries
  • Kidney abnormalities
  • Heart conditions

Hormone replacement therapy can help individuals with this condition complete their sexual development, and assisted reproductive technology can help them conceive.

Fragile X-associated primary ovarian insufficiency (FXPOI)

Fragile X-associated primary ovarian insufficiency (FXPOI) is a genetic condition characterized by reduced function of the ovaries. People who have a gene mutation on the X chromosome are at increased risk for developing FXPOI. An estimated 1 in 200 females has the genetic change which leads to FXPOI, although only around a quarter of them develop the condition.

In addition to infertility, symptoms of fragile X-associated POI include:

  • Irregular menstrual cycles
  • Early menopause
  • Elevated levels of follicle stimulating hormone (FSH), a hormone released by the pituitary gland which regulates the functions of both the ovaries and the testes

Fragile X can be detected by genetic testing for infertility. Those with FXPOI also have a higher risk of having a child with fragile X syndrome, a more severe form of gene mutation that causes intellectual disability.

Congenital adrenal hyperplasia (CAH) and female infertility

Studies show that congenital adrenal hyperplasia (CAH) is the most common steroid genetic disorder known to affect fertility. The disorder impacts the adrenal glands, a pair of small organs above the kidneys, which produce important hormones like the sex hormones.

In individuals with CAH, a gene mutation results in a lack of one of the enzymes needed to make these hormones. Congenital adrenal hyperplasia can be detected through genetic testing. Besides infertility, symptoms of CAH in females include atypical genitalia, early onset of puberty, and excess body hair.

Chromosomal rearrangements and female fertility

​​Just as with male fertility, chromosomal rearrangements such as deletion, translocation, duplication, inversion, and other abnormalities can negatively impact female infertility.

Symptoms of such chromosomal anomalies include premature ovarian insufficiency, amenorrhea, and miscarriage. Genetic testing can be performed to check for chromosome rearrangements. Additionally, embryos created with IVF can be genetically tested to ensure they have the correct number and arrangement of chromosomes.

Who should consider genetic testing for infertility?

If a person is aware of a family history of genetic disorders or if they belong to a certain ethnic group predisposed to genetic disorders, they should consider genetic testing for infertility.

Even if the only symptom they have is trouble conceiving, genetic testing can determine if there’s a genetic component to a person’s infertility. This diagnosis can help doctors develop a plan for treatment to increase fertility chances. This is most beneficial if done early in one’s reproductive journey. If they haven’t done it beforehand, genetic testing during pregnancy is recommended to detect conditions that may affect their baby’s health and development.

Benefits of genetic testing when trying to conceive

The primary reason people opt for genetic testing is to detect a disease that may be passed to offspring. But there are many benefits to this type of screening:

Family planning 

Genetic testing can help eliminate uncertainty when trying to conceive. Genetic screening can reveal if there will be any obstacles to anticipate on the road to conception and if advanced reproductive technologies can make the process easier. 

Genetic testing can also reveal if a condition might be passed on to your offspring. Screening can be performed for over 200 inherited conditions that often hide in families. This can also be important if you are not as familiar with your genetic history (for example, if you or your partner were adopted).

If you and/or your partner are carriers of a genetic disorder, you might opt to use IVF with embryo genetic testing, or even egg or sperm donation, to avoid passing inherited diseases onto your children.

It’s important to note that a positive result in genetic testing does not always mean the condition or disease will develop. It’s important that you interpret the results of your genetic testing with the help of a doctor or genetic counselor.

Early treatment for genetic disorders

Diagnosis of a genetic condition can help doctors make recommendations for treatment or monitoring. If a person finds out they are at risk for developing a certain genetic condition, they might make certain lifestyle changes, or screen earlier or more often for a specific disease. They may also be able to access treatment that can improve their outcomes. 

Genetic testing costs

According to the National Human Genome Institute, genetic testing costs can range anywhere from less than $100 to more than $2,000. Genetic testing costs increase if more than one test is necessary, or if multiple family members (such as a person and their partner) must be tested to obtain an accurate result.

Health insurance companies may cover part or all of the genetic testing cost, or they may not cover it at all. If genetic testing is recommended by a person’s doctor, insurance is more likely to cover genetic testing costs, but they should always contact their insurance company first for details. Genetic counseling to discuss the types of tests available and the meaning of results may require an additional fee.

Many individuals may also be worried about facing discrimination based on their genetic testing results. In 2008, Congress enacted the Genetic Information Nondiscrimination Act (GINA) to protect people from discrimination by their health insurance provider or employer. However, this legislation does not apply to long-term care, disability, or life insurance providers, so those considering this type of testing should be aware of their coverage before proceeding.

How can I check my own fertility? 

Many people seek genetic testing while trying to conceive. The first step to understanding male fertility is a semen analysis, a noninvasive test that examines the health and quality of your sperm.

You can easily check your fertility from the comfort of your own home with Legacy’s at-home semen analysis kits. Considered the most scientifically advanced at-home semen test, your analysis will include insights on crucial semen parameters like sperm count, motility, and morphology. There is also an option for sperm genetic testing at home by adding a DNA fragmentation analysis, which assesses your sperm’s genetic health.

Sperm testing is conducted in CLIA-certified labs by a team of experienced scientists. All results are reviewed by medical staff to provide personalized recommendations on lifestyle changes, male fertility supplements and more to improve your sperm health, whether you hope to start a family in the near future or years from now.

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