The Role Of Genetics In Fertility: Here's All You Need To Know

Genetics plays a key role in fertility and can affect both individuals assigned male or female at birth. Conditions like Turner syndrome, Klinefelter syndrome, and Y-chromosome microdeletions can impact your ability to conceive. Genetic testing can help identify any underlying causes and guide you toward the right treatment options.

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Have you been struggling to conceive? Do you not have any underlying health conditions?

Unexplained infertility could be linked to genetic factors. If you are facing fertility issues without a clear cause, it's advisable to undergo testing to identify any genetic influences.
Genetic testing can help you understand if your fertility issues are caused by genetics. Both individuals assigned male or female at birth can experience infertility due to genetic factors. Therefore, if you are facing challenges with your reproductive health, it's best to consult healthcare professionals as soon as possible.
After thorough testing, you can get a better understanding of what might be affecting your chances of conceiving. It’s best to speak with your healthcare professional, who can offer personalised guidance and suggest the best steps to support your fertility journey.

Genetics & Fertility: An Overview

Genetics plays a significant role in fertility and infertility. A considerable number of individuals face infertility due to genetic factors, which can affect the reproductive organs of people assigned male or female at birth. These genetic factors may impact the quality of eggs, sperm production, embryo implantation, or even egg production.
If you or your partner has, or suspects, a genetic condition, it’s best to consider genetic testing before trying to conceive. This can help identify any underlying issues and allow you to get personalised advice and the right treatment. Your healthcare professional can guide you through your options and suggest what may work best for your situation.
Some of the genetic factors that can affect fertility include single-gene disorders, multifactorial disorders and even chromosomal abnormalities. Consulting professionals help identify the most appropriate solution.

How Does Genetics Impact Conception Chances?

Genetics has a huge impact on conception. Genetic variations can affect several factors, such as the reproductive hormones, the quality of sperm and eggs, and even the risk of developing any genetic disorders. Before starting IVF, it’s important to understand these factors to get the right diagnosis and reduce the risk of infertility.
Different symptoms can affect fertility in different ways. For example, due to these genetic conditions, embryo implantation can become a significant challenge. Under some circumstances, it may be difficult for the sperm to swim through and fertilise the egg. Therefore, genetics in both males and females can cause infertility issues.

Genetic disorders causing female infertility

Inherited genetic conditions can often be attributed to be the reason for female infertility. Some of these genetic conditions can affect the reproductive organs, hormone regulation and ovaries. Some of the common genetic disorders causing female infertility are as follows:
  • FXPOI
Fragile X syndrome is the main cause behind this due to the mutation of the FMR1 gene. If you have this condition, you might be prone to irregular menstrual cycles or even early menopause.

  • Turner syndrome
One of the most common signs of Turner syndrome is problems with how the ovaries work. This often means the ovaries are underdeveloped, which can lead to lower hormone production.
  • Chromosome rearrangements
If your chromosomes are rearranged, it can disrupt your normal ovarian function. This may mean your eggs don’t develop at the right time, the quality of the eggs may be affected, or fertilisation may be less likely to succeed. As a result, you might find it more difficult to conceive.
  • Single-gene variants
Single-gene variants can affect normal ovarian function. If not managed early, this may contribute to conditions like Polycystic Ovary Syndrome (PCOS), which is multifactorial in nature. PCOS can impact fertility and overall health, but there are effective management strategies available to help address the symptoms and improve fertility outcomes.

Genetic disorders causing male infertility

If you were assigned male at birth, it's important to be aware of any genetic conditions that could affect your fertility. If these are not addressed early, they may lead to infertility. Some common genetic disorders linked to male infertility include:
  • Y-Chromosome microdeletions
This has often been considered to be one of the most common causes of infertility in men. It affects the production and quality of sperm. Some specific genes get deleted and eventually lead to infertility. Testing can help you detect if you have Y-chromosome microdeletions.

  • Cystic fibrosis
Cystic fibrosis is a genetic disorder that affects multiple systems, including the lungs and reproductive tract, often leading to infertility in males.
  • Klinefelter syndrome
Klinefelter syndrome is a genetic condition caused by the presence of an extra X chromosome. It can affect hormone levels, often leading to lower testosterone and reduced sperm production, which may impact fertility.
Some individuals may also notice physical changes, such as increased breast tissue or reduced muscle mass. If you have this condition, there are supportive treatments available, and speaking with a healthcare professional can help you explore your options.
  • Kallmann syndrome
Kallmann syndrome can often be diagnosed because of a delay in puberty. It leads to low levels of testosterone, which is crucial for sperm production. Hormone replacement therapy can, however, help fix the condition.
  • Polygenic Factors
Several fertility problems, like ovulation disorders or sperm quality, may be linked to multiple genes. This implies that inheriting a specific combination of genes rather than the genetic defect can eventually increase the risk of infertility. It is crucial to understand various polygenic factors for personalised fertility management and eventually opt for genetic counselling as required.
  • Epigenetics
Epigenetics refers to the study of heritable changes in gene expression without changing the DNA sequence. It plays an important role in determining the genetic predispositions that can affect fertility due to the surrounding factors, such as stress or diet.
Therefore, it’s important to make healthy choices such as stress management, diet and exercise, which can eventually influence epigenetic modifications. This can have an impact on fertility and be passed on to future generations.

Chromosomal Abnormality Affecting Fertility

If you have any chromosomal abnormality, it is advisable to be extremely careful. This condition might have an impact on fertility and also lead to pregnancy loss. These chromosomal abnormalities also prevent the normal development of the body.

  • Aneuploidy
Aneuploidy is usually when your body has an abnormal number of chromosomes. It can have a severe negative impact on fertility. Both males and females can have this condition.

  • Genomic Imprinting
Genomic imprinting is an epigenetic process where certain genes are expressed differently depending on whether they are inherited from your mother or father. This can impact your development and may be linked to conditions like Angelman or Prader-Willi syndrome. If you are concerned about your genetic health, it’s best to speak with a healthcare professional for guidance.

When to Consider Genetic Testing?

Genetic testing can be done under various circumstances to ensure that everything is streamlined. Here are some common situations where it may be helpful to consider genetic testing:
  • You have a family history of genetic disorders
  • You suffer from unexplained fertility issues
  • You have had multiple miscarriages
  • You are over the age of 35
  • Before you undergo IVF treatment
  • You have had multiple failed IVFs in the past
  • You have a risk of known genetic disorders
  • Your previous pregnancy had aneuploidy
  • Either you or your partner has structural chromosome rearrangements

Inherited Fertility Conditions and Risk of Transmission

Infertility can sometimes be inherited, with conditions like Turner syndrome, Klinefelter syndrome, premature ovarian insufficiency, and Y-chromosome microdeletions being potential causes. However, not all of these conditions are genetic; some may occur due to chromosomal abnormalities.
Sometimes you may carry genetic mutations and pass them down to your child even if you don’t have them. Therefore, it’s best to conduct carrier screening to know the risk of diseases like Fragile X syndrome or cystic fibrosis being transferred to your child.
Genetic conditions can be inherited through dominant or recessive patterns. It’s best to consult your healthcare professional to understand the inheritance pattern and then move ahead with the treatment accordingly.

Options for genetic fertility issues

Genetic factors can sometimes affect fertility, but understanding them early can make a big difference. It’s best to explore screening options, as they can help identify any potential concerns and guide you toward the most suitable next steps. Here are some common ways to assess genetic influences on fertility:
  • Karyotype
If you suspect that there may be any genetic risk, it is advisable to undergo thorough karyotype testing. It is often referred to as chromosome analysis, used to examine the structure, size and number of chromosomes in the baby’s cell. It plays a key role in detecting genetic disorders. If the test results are positive, it means that there’s a risk of genetic disorders.
  • Genetic Carrier Screening
Genetic carrier screening can help identify inherited conditions that might affect your fertility or be passed on to your children. You may consider preconception genetic testing if you are planning a pregnancy, as it can give you a clearer understanding of any potential risks.
A genetic counsellor can guide you through the process, explain the results, and support you in exploring your options.
  • Y-chromosome Microdeletion Analysis
Y-chromosome microdeletion is one of the most common causes of infertility in individuals assigned male at birth. This test helps identify any missing segments of DNA on the Y-chromosome. If you suspect a potential risk, taking the test can be useful in understanding the extent of the microdeletions and exploring suitable treatment options.

Benefits of genetic testing for fertility

Understanding your genetic profile is extremely crucial, especially if you want to know about fertility issues. Some of the common benefits of genetic testing for fertility are as follows:
  • You can understand the main cause behind fertility issues
  • You can undergo more targeted treatment plans that are effective
  • You can understand if there's a risk of passing these to your children
  • You can undergo assisted reproductive technology to increase the chances of conception

Future of Genetics in Fertility

Genomic research can often help in overcoming genetic markers related to various infertility challenges, such as endometriosis and recurrent miscarriages. Whole genome sequencing is becoming available, enabling healthcare experts to personalise fertility treatments based on DNA.
CRISPR Technology and Artificial Intelligence are used for predicting faulty genes and genetic and lifestyle data accordingly. Gene editing possibilities are theoretical, but they can be promising for removing any genetic barriers.
Furthermore, the predictive technology through AI might also help couples understand their chances of success for IVF or any potential hereditary risks that are there. As genetic advancements in fertility progress, it's important to understand both the potential benefits and risks.

Preimplantation Genetic Testing

Preimplantation genetic testing is a common part of IVF that checks an embryo for genetic problems before it is transferred to the uterus. This method usually screens the embryo for a single-gene mutation and chromosomal abnormality.
Undergoing this test offers two advantages:
  • Reduce the risk of genetic disease being transferred to the child
  • Increase the chances of a successful pregnancy

Preimplantation genetic testing should be done under expert supervision in a controlled environment. Therefore, it is important to consult professionals to help with the procedure. Moreover, if you're choosing a fertility clinic, make sure that they have a positive reputation in the market.

Types of Preimplantation Genetic Testing

The following tests are done before implantation of the embryo:
  • Preimplantation Genetic Testing for Aneuploidy (PGT-A)
This test usually checks the embryo for abnormalities in the chromosomes. It helps determine if the embryo has the correct number of chromosomes. This test is crucial to lower the risk of miscarriage.
  • Preimplantation Genetic Testing for Monogenic Disorders (PGT-M)
Preimplantation Genetic Testing is usually done to identify conditions caused by a specific single-gene mutation, such as Huntington’s disease or cystic fibrosis. If your family has a history of specific general disorders, you should undergo this test.
  • Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)
This test usually checks for structural changes within the chromosomes, like inversions or translocations. If you know that you have any chromosomal rearrangement, you should do this test before the embryo is transferred.

Practical Advice for Individuals and Couples

If you have a family history of genetic conditions, recurrent miscarriage or pregnancy loss and advanced maternal age, it is advisable to undergo genetic testing. Furthermore, it’s best to opt for genetic testing if you and your partner have any specific genetic condition which leads to infertility.
Genetic testing can be expensive, so make sure to prepare yourself financially. Moreover, it can sometimes lead to anxiety and panic, which is why you need to prepare yourself emotionally, too. Discussing with your partner and healthcare professional can often help to calm down and weigh all the options.
Lifestyle and environmental factors can also affect genetics. It’s important to follow a balanced diet, get proper sleep and exercise regularly to maintain a healthy lifestyle. As for the environmental factors, it’s important to avoid toxins as much as possible. Also, while undergoing genetic testing for fertility, make sure to practice stress management too.
If you think you might have a genetic condition, it's important to get tested. Some conditions may not affect you directly, but can still be passed on to your child. Testing early in pregnancy, or even before implantation, can help reduce the risk of genetic disorders. If you're going through IVF, your doctor can guide you on the best steps to take.

FAQs on The Role of Genetics in Fertility

  1. Is it possible for couples with genetic infertility to have a healthy baby?
    If you are dealing with genetic infertility, you can still have a healthy baby with the help of fertility treatments like IUI, IVF, or ICSI. Tests such as chorionic villus sampling (CVS) or amniocentesis can also help detect any genetic issues early on.
  2. How early can the risk of foetal chromosomal abnormalities be identified?
    If you are undergoing IVF, your healthcare experts should be able to detect the risk of chromosomal abnormalities in the baby during the embryo stage. Therefore, you may consult with your doctor and adopt the best treatments accordingly.
Disclaimer: Medically approved by Dr Chandana Narayana, Senior Consultant – Infertility and IVF, Kinder Women’s Hospital and Fertility Centre, Bangalore