The Role of Genetics in Fertility: When to Consider Genetic Testing

Are you struggling to conceive? You are not alone. Many couples face fertility challenges, and sometimes the root cause lies in our genes. Understanding the connection between fertility genetics and reproductive health can be crucial in your journey to parenthood.

In this article, we'll explore the role genetics plays in fertility and when you might want to consider genetic testing.

Are fertility issues genetic?

The short answer is: sometimes. Fertility is a complex interplay of various factors, including age, lifestyle, and yes, genetics. While not all fertility problems have a genetic basis, research suggests that genetics can play a significant role in some cases.

Some genetic conditions that can affect fertility include:

1. Chromosomal abnormalities
2. Single gene disorders
3. Multifactorial disorders

These genetic factors can impact both male and female fertility, affecting everything from sperm production to ovarian function.

Read more about autoimmune disorders that are partially linked to genetic predisposition here. 

How does genetics influence fertility?

Genetics can influence fertility in several ways:

For women:

• Premature Ovarian Insufficiency (POI): Some genetic mutations can cause a woman's ovaries to stop functioning before the age of 40.

• Polycystic Ovary Syndrome (PCOS): While the exact cause is unknown, PCOS appears to have a genetic component.

• Endometriosis: This condition, which can affect fertility, may have genetic links.

For men:

• Chromosomal abnormalities: Conditions like Klinefelter syndrome can affect sperm production.

• Y Chromosome microdeletions: These can lead to low sperm count or no sperm production.

• Cystic fibrosis: Men with CF often have fertility issues due to the absence of the vas deferens.

When to consider fertility and genetic testing?

If you are struggling to conceive, you might be wondering if genetic testing would be able to provide answers. Here are some situations where genetic testing might be recommended:

1. Recurrent miscarriages

   • If you have experienced multiple miscarriages, genetic testing can help identify potential causes.

2. Family history

   • If there is a history of genetic disorders or fertility issues in your family, testing may be advisable.

3. Age

   • Women over 35 or men over 40 might benefit from genetic screening, as the risk of certain genetic issues increases with age.

4. Unexplained infertility

   • If other fertility tests have not provided answers, genetic testing might uncover hidden issues.

5. Before IVF

   • Genetic testing can help identify embryos with the best chance of resulting in a healthy pregnancy.

Explore various genetic tests at Thomson Medical here. 

Types of fertility genetic tests

There are several types of genetic tests that can provide insights into fertility:

1. Karyotype analysis

   • This test looks at the number and structure of chromosomes.

2. Carrier screening

   • This identifies if you carry genes for certain inherited disorders.

3. Preimplantation genetic testing (PGT)

   • Used in IVF to screen embryos for genetic abnormalities.

4. Whole exome sequencing

   • This advanced test can identify rare genetic variants that might affect fertility.

Preimplantation genetic diagnosis (PGD)

Preimplantation genetic diagnosis (PGD) offered at Thomson Medical is a specialised form of genetic testing that is particularly relevant for couples undergoing IVF treatment. Here's what you need to know:

What is PGD?

PGD is a procedure to test embryos for specific genetic disorders or chromosomal abnormalities before implantation during an IVF cycle.

Who should consider PGD?

PGD is typically recommended for:

• Couples who carry the risk of certain heritable diseases or disorders

• Couples who want to prevent genetic conditions from being passed on to their child

• Older couples or those who have experienced recurrent miscarriages

How is PGD performed?

• Blood samples are taken from the couple to develop a testing system specific to their genetic profile.

• The couple undergoes IVF treatment, regardless of their fertility status.

• Embryos are created by fertilising the eggs with sperm.

• When the embryos reach a multi-cell stage, 2 cells are extracted from each embryo.

• These cells are tested for specific genetic abnormalities.

• Normal embryos are then selected for transfer to the uterus.

PGD can significantly improve the chances of a successful pregnancy and a healthy baby for couples at risk of genetic disorders.

The benefits of genetic testing for fertility

Understanding your genetic profile can offer several advantages:

• It can help identify the root cause of fertility issues.

• It allows for more targeted and effective treatment plans.

• It can provide information about the risk of passing on genetic conditions to children.

• For those using assisted reproductive technologies, it can improve the chances of a successful pregnancy.

Makling an informed decision about genetic testing

Deciding whether to undergo genetic testing is a personal choice. At Thomson Medical, our fertility specialists can guide you through the process, helping you make an informed decision about whether genetic testing is right for you.

Remember, while genetics play a role in fertility, they are just one piece of the puzzle. A holistic approach to fertility, considering lifestyle factors, overall health, and medical history, often yields the best results.

If you are concerned about your fertility or are considering genetic testing, request an appointment with one of our fertility specialists at Thomson Fertility Centre. We are here to support you on your journey to parenthood.

The information provided is intended for general guidance only and should not be considered medical advice. For personalised recommendations and tailored advice, please consult a fertility specialist at Thomson Medical.