The journey to parenthood can be filled with excitement and anticipation.

However, for some couples, this path might come with unexpected hurdles, including infertility.

While various factors can contribute to infertility or subfertility, sometimes genetics can play a silent role.

It can especially be a factor to look out for, when it’s hereditary.

So, what’s someone to do about it? and how do we go about detecting it?

That’s what we dive into, with this article. Explore the connection between genetics and infertility, the common causes in both men and women, and how advancements like IVF and genetic testing offer alternate pathways.

Read on!

How does genetics affect fertility?

The process of fertility is a intricate blend of biological and genetic elements affecting an individual or a couple's capacity to conceive and sustain a pregnancy. Recent advancements have greatly advanced our comprehension of genetics in relation to fertility.

Genetics plays a fundamental role in our ability to reproduce. It affects how our hormones work, the growth of eggs and sperm, and the overall function of our reproductive system.

Our genetic composition has a significant impact on the complex processes involved in fertility. Dr. Smith, a fertility specialist, explains, "Our genes are crucial in determining how our reproductive system operates. They influence everything from hormone levels to the quality of eggs and sperm."

Genetic variations also play a crucial role, influencing factors such as ovarian reserve, egg quality, sperm count, and motility. These variations can have a substantial impact on an individual or couple's ability to conceive. Dr. Smith further adds, "Variations in our genes can affect various aspects of fertility, potentially causing challenges in conception and pregnancy." Understanding these genetic factors is essential in comprehending fertility-related issues and seeking appropriate guidance for conception.

What are some genetic causes of infertility in men?

Genetic testing in male infertility can reveal variations in genes influencing sperm production, morphology, or motility, contributing to challenges in achieving conception. Some of these include:

• Chromosomal abnormalities: Chromosomes are thread-like structures that carry our genes. Men with an abnormal number of chromosomes, like Klinefelter syndrome (XXY), may have underdeveloped testes and low sperm production.

• Microdeletions: These are tiny deletions of genetic material (codons) on the Y chromosome, crucial for sperm development. They can cause low sperm count or abnormal sperm morphology (shape).

• Cystic fibrosis (CF) Transmembrane Conductance Regulator (CFTR) Gene Mutations: Mutations in this gene, responsible for mucus production, can also block sperm ducts, leading to infertility.

• Y chromosome infertility genes: Specific genes on the Y chromosome directly control sperm production. Mutations in these genes can cause low sperm count or poor sperm motility (movement).

• Single gene defects: Certain single gene mutations can affect sperm production or function, like mutations in genes related to hormone regulation.

What are some genetic causes of infertility in women?

It assists in identifying genetic factors associated with various conditions, including Polycystic Ovary Syndrome (PCOS), endometriosis, and so on, shedding light on their complex connections to challenges in fertility.

For instance, Polycystic Ovary Syndrome (PCOS), a prevalent endocrine disorder among women, exhibits identifiable genetic components. Genetic variations associated with PCOS can impact hormone levels, disrupt ovulation, and contribute to difficulties in conceiving.

Similarly, here are some other genetic causes:

• Chromosomal abnormalities: Similar to men, women with chromosomal abnormalities like Turner syndrome (X) may have underdeveloped ovaries and irregular ovulation.

• Fragile X Syndrome: This genetic condition can cause irregular menstrual cycles and early menopause in women.

• Carrier Status for Recessive Genetic Disorders: Women who are carriers of certain recessive genetic conditions may have a higher risk of conceiving a child with the same disorder.

• Mutations in Genes Related to Ovulation: Genes involved in egg development and ovulation can have mutations that disrupt egg quality or prevent ovulation altogether.

• Endometriosis: While not strictly genetic, endometriosis (uterine tissue growing outside the uterus) can have a hereditary component and contribute to infertility.

IVF and genetic infertility: what’s the connection?

While a genetic diagnosis of infertility can feel daunting, advancements in assisted reproductive technologies (ART) like In Vitro Fertilization (IVF) offer a potential solution.

IVF involves stimulating egg production in the woman, retrieving mature eggs, fertilizing them with sperm in a laboratory dish, and then implanting healthy embryos back into the uterus.

This can bypass genetic issues related to ovulation, menstrual cycles, or egg development, and so on.

There are two main processes in IVF that help detect genetic issues:

• Karyotype Screening: Before IVF, both partners can undergo karyotype testing, which analyzes their chromosomes for abnormalities. This can help identify potential problems and guide treatment options.

• Preimplantation Genetic Testing (PGT): This advanced technique allows for genetic testing of embryos created during IVF. Some cells are biopsied from the outer layer of the developing embryo, known as the trophectoderm and analyzed for chromosomal abnormalities or specific genetic diseases. Only healthy embryos free from these issues are then considered for implantation, increasing the chances of a successful pregnancy and reducing the risk of miscarriage.

How can pre-implantation genetic testing help?

Preimplantation Genetic Testing (PGT) revolutionizes the screening of embryos conceived through IVF. By detecting specific genetic conditions before implantation, PGT helps reduce the likelihood of passing genetic conditions to offspring, thus offering a way to mitigate potential genetic risks.

By identifying healthy embryos, PGT offers several advantages:

• Improved pregnancy rates: Selecting healthy embryos with PGT can significantly improve the success rate of IVF implantation.

• Reduced risk of miscarriage: Embryos with chromosomal abnormalities are more likely to miscarry. PGT helps avoid this heartbreak by selecting only viable embryos.

• Lower risk of genetic disease: For couples carrying genes for specific diseases, PGT allows them to choose embryos free from those mutations, reducing the risk of the child inheriting the condition.

Can genetic counselling help?

Genetic counseling is a great resource for couples with a family history of infertility or genetic disorders. A genetic counselor can:

• Analyse your family history and identify potential genetic risks.

• Explain the various genetic tests available and their implications.

• Offer personalised guidance on navigating fertility options like IVF and PGT.

• Provide emotional support throughout the decision-making process.

Arva’s take on genetics and infertility

At Arva, our team understands the complexities of fertility, including the role of genetics.

That’s why we made it our mission to empower you on your journey towards parenthood, with all the right resources, fertility tests and our network of non judgemental gynaecologists to get your journey started.

We help you connect you with the right fertility specialists, genetic counselors, and provide you with the resources and support needed to navigate this path.

And remember, we’re always here, cheering on your every step!