The Promise of Mitochondrial DNA Testing in Female Fertility

Mitochondrial DNA (mtDNA) testing is a new tool that can help women understand their fertility better. It is especially useful if you’re having trouble getting pregnant. But what is mtDNA and why does it matter? This blog explains how mitochondria work, how mtDNA testing is done, and how it can help with IVF and choosing good-quality eggs.

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When a woman faces trouble in getting pregnant, it can be very stressful. Sometimes, the problem lies deep inside our body, in something called mitochondria. These are tiny parts of cells that give energy. They also have their own DNA, which is passed from the mother to the baby. This DNA is called mitochondrial DNA or mtDNA.



Understanding this can help doctors give better fertility advice and treatment. Whether you have started fertility tests or are already doing IVF, knowing about mtDNA can help you make smarter choices.


Understanding Mitochondria and mtDNA

Every cell in our body has mitochondria. These are like tiny power stations that give energy to our bodies. They produce something called ATP, which is the fuel that helps cells work properly.

Mitochondria are special because they have their own type of DNA, different from the DNA in the rest of the cell. This DNA comes only from the mother. It has just 37 genes, but they are important for energy production.

When it comes to fertility, eggs need a lot of energy to grow, fertilise, and develop into a healthy baby. This energy comes from mitochondria.


Why Mitochondrial DNA Matters in Fertility

Getting assisted reproductive technologies (ART) such as IVF requires a good quality embryo for high success rates. Traditionally, embryologists evaluate embryos based on morphology and, more recently, genetic screening. However, neither of these can fully predict implantation. Mitochondrial DNA testing can make a meaningful difference here.

Recent research suggests that the quantity of mtDNA in an embryo is associated with its ability to implant, which leads to a healthy pregnancy. In simple terms, embryos with optimal mitochondrial function tend to perform better.

  • Egg Quality Indicator: The energy stored in an egg is critical for successful fertilisation and early development. A high or low mtDNA number may indicate whether an egg has sufficient energy reserves.
  • Implantation Predictor: Embryos with abnormal mitochondrial DNA (mtDNA) levels have lower implantation rates, even when they appear genetically normal.
  • Age-Related Decline: Mitochondrial function naturally declines with age, leading to reduced fertility. mtDNA testing helps quantify this decline and guide your treatment options accordingly.

What Is Mitochondrial DNA Testing?

Mitochondrial DNA testing typically involves analysing embryos created during IVF. After fertilisation and before implantation, a few cells are carefully biopsied from the embryo and assessed in a lab. During this analysis, technicians measure the mtDNA copy number within those cells.

A mitoscore refers to the ratio of mitochondrial DNA (mtDNA) content in each embryo. Embryos with mitoscores within a certain range are more likely to result in positive outcomes in clinics, and mtDNA testing is already being used in conjunction with preimplantation genetic testing for aneuploidy (PGT-A) to provide a more comprehensive picture of embryo viability. Combining these insights allows your fertility team to make informed decisions about which embryos to transfer.



How Mitochondrial DNA Testing Supports Your Fertility Journey

You may be wondering if this test is right for you. While mitochondrial DNA testing isn’t yet available for every IVF patient, it can be especially helpful in certain situations.

Here’s when it may be most beneficial:

  • Repeated IVF Failures: If you have experienced multiple unsuccessful IVF cycles with good-quality embryos, mtDNA testing could uncover hidden issues related to embryo energy potential.
  • Advanced Maternal Age: As you age, both egg quality and mitochondrial function decline. mtDNA testing may help identify which embryos still carry a strong chance of success.
  • Unexplained Infertility: For those without a clear diagnosis, mtDNA testing may provide additional insights that standard tests overlook.
  • Single Embryo Transfer Planning: When choosing one embryo to transfer, mtDNA testing may help ensure the selected embryo has optimal implantation potential.
Importantly, this test is non-invasive to the embryo’s core structure and is performed on already biopsied cells used in standard genetic screening.


Potential Limitations to Consider

While mtDNA testing offers promise, it is important to approach it with realistic expectations.

  • Still Emerging: mtDNA testing is relatively new, and while growing research supports its utility, it hasn’t been universally adopted.
  • Variability in Results: There’s no global consensus on the exact mtDNA threshold for embryo viability. Different labs may use different scales or interpretations.
  • Complementary, Not Standalone: mtDNA analysis should be seen as a supplementary tool, not a replacement for genetic screening or embryo morphology assessments.
Combining mtDNA testing with existing fertility diagnostics enhances your medical team’s ability to personalise your treatment strategy.


Future Implications and Research Directions

As science progresses, mtDNA testing may not just help select the best embryo, but it could also pave the way for mitochondrial therapies.

There is active research into techniques that may improve mitochondrial health, such as mitochondrial replacement therapy (MRT). The other option is targeted supplements to enhance mitochondrial function in eggs. In the future, your fertility treatment may not only involve selecting embryos but also actively improving their energy potential before transfer.

Furthermore, ongoing studies aim to refine the interpretation of mitochondrial DNA (mtDNA) content. Instead of simply counting mitochondria, researchers are investigating the quality of mitochondrial function, mutations in mtDNA, and their broader role in female reproductive ageing.


Empowering You Through Information

The journey through fertility treatment can feel overwhelming at times. But with advanced tools like mitochondrial DNA testing, you have more control than ever over the process. Understanding the health of your mitochondria can offer another layer of insight, helping you and your doctors make informed choices.

Whether you’re just starting your fertility evaluation or have been on this path for a while, consider discussing mtDNA testing with your fertility specialist.

Mitochondrial DNA testing offers a promising new approach for evaluating embryo viability, particularly in cases that are complex or unexplained. By focusing on the energy potential within your embryos, mtDNA testing adds another level of precision to IVF planning and embryo selection.

It’s essential to remember that a complex interplay of biological factors influences fertility; no single test holds all the answers. However, each advancement, like mtDNA testing, brings you closer to personalised care. By understanding cellular function, you gain clarity and control in your reproductive planning. As the field evolves, tools like this will continue to enhance outcomes and reduce uncertainty.

Consult your fertility specialist to explore whether mitochondrial DNA testing is the right step in your journey.


FAQs on The Promise of Mitochondrial DNA Testing in Female Fertility

  1. Is mitochondrial DNA testing safe for my embryos?
    Yes, mitochondrial DNA testing is safe as it utilises the same cells collected during preimplantation genetic testing. It does not harm your embryo or require any additional manipulation.
  2. How does mtDNA testing differ from genetic screening like PGT-A?
    PGT-A identifies chromosomal abnormalities that may prevent successful implantation or cause miscarriage. mtDNA testing examines your embryo's mitochondrial DNA, which is responsible for its energy reserve. It offers a different and complementary perspective on viability.
  3. Will mtDNA testing guarantee a successful pregnancy?
    There is no fertility test with a guarantee, but it can increase the chances of pregnancy. mtDNA testing improves the odds of selecting embryos with the highest implantation potential. It works well in combination with other diagnostic tools.
Disclaimer: Medically approved by Dr Shweta Mendiratta, Obstetrics and Gynaecology, Associate Clinical Director and Head Unit 2 – Obstetrics & Gynaecology, Marengo Asia Hospitals, Faridabad