The future of IVF: how genetic medicine is shaping the next generation of fertility treatments

On this page:

What is mitochondrial donation?

When mitochondrial DNA carries faults

How mitochondrial donation works

Why this breakthrough matters

The power of genetic testing in IVF today

The role of genetic counselling

Prevention and precision: where IVF is heading

Looking ahead

Frequently asked questions about mitochondrial DNA and IVF

What is mitochondrial donation?

Every cell in the human body contains tiny powerhouses called mitochondria. You can think of them as the “batteries” that give our cells the energy they need to function.

Each mitochondrion carries a small piece of its own genetic material, known as mitochondrial DNA, which is separate from the DNA found in the cell’s nucleus. Yes, that’s right, we actually have two different types of DNA in our bodies!

Unlike nuclear DNA — which comes half from the mother and half from the father — mitochondrial DNA is passed down only from the mother.

This is because the egg provides almost all the material that makes up the embryo, while the sperm contributes only its nuclear DNA. The mitochondria in the sperm are not passed on after fertilisation.

Caption: Illustration of the mitochondrion, the tiny “powerhouse” inside human cells that produces energy. Each mitochondrion contains its own mitochondrial DNA, passed down only from the mother.

When mitochondrial DNA carries faults

Sometimes, the mitochondria in a woman’s eggs carry small faults in their DNA. These faults can interfere with how cells produce energy and may lead to serious inherited conditions that affect vital organs, such as the:

• Brain – causing developmental delays, seizures, or stroke-like episodes
• Heart – leading to cardiomyopathy or arrhythmias
• Muscles – resulting in weakness or fatigue
• Liver and kidneys – sometimes leading to organ failure

Examples of mitochondrial diseases include:

• Leigh syndrome
• MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes)
• MERRF (myoclonic epilepsy with ragged red fibres)

These are rare but serious conditions that can appear in early childhood and are often life-limiting.

How mitochondrial donation works

Mitochondrial donation offers a way to prevent these diseases from being passed on. The technique involves:

1. Taking the mother’s egg and removing its faulty mitochondria.
2. Replacing them with healthy mitochondria from a donor egg.
3. Fertilising the egg with the father’s sperm to create a healthy embryo.

The resulting embryo carries:

• Almost all of its DNA from the biological parents (the nuclear DNA that determines traits such as appearance and personality)
• A very small amount of mitochondrial DNA from the donor, ensuring that the cells can produce energy properly

Because of this, mitochondrial donation is sometimes called the “three-parent baby” technique, though the donor’s contribution is limited to less than 1% of the baby’s total DNA.

Why this breakthrough matters

About one in every 5,000 babies is born with a mitochondrial disorder. For families with a history of these conditions, this new technique offers genuine hope — the possibility of having a genetically related child without passing on the disease.

The so-called “three-parent” approach is just one example of how reproductive medicine is evolving. We are moving towards a future where prevention plays a central role, where advances in genetic science can help reduce the risk of inherited conditions before pregnancy even begins.

The power of genetic testing in IVF today

Even without mitochondrial donation, today’s IVF laboratories already use several advanced genetic testing techniques to help identify risks, guide treatment decisions, and improve the chances of a healthy pregnancy. At Ferticentro, these tests form an important part of our personalised approach to reproductive care.

The main types of genetic testing include:

• PGT-A (Preimplantation Genetic Testing for Aneuploidy) – This test checks whether embryos have the correct number of chromosomes. It’s often recommended for women over 37, for couples who have experienced repeated miscarriages or pregnancies affected by chromosomal abnormalities, or when there have been several unsuccessful implantation attempts.
• PGT-M (Preimplantation Genetic Testing for Monogenic Diseases) – Used when one or both partners carry a specific gene for a serious inherited disorder, such as cystic fibrosis, spinal muscular atrophy, or Huntington’s disease.
• PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements) – Detects chromosomal translocations or inversions that can increase the risk of miscarriage or congenital anomalies.

All of these tests share one goal: to help us select the embryos with the highest potential to develop into a healthy baby, while reducing the emotional and physical strain of repeated IVF cycles.

The role of genetic counselling

Genetic testing is a powerful tool, but interpreting the results requires specialist knowledge. This is where clinical genetic counselling becomes so important.

A genetics consultation helps couples understand their family or personal history of genetic disease, identify potential risks before treatment begins, and discuss reproductive options — including the use of donor eggs or sperm when appropriate. It also helps interpret PGT results and plan the next steps with confidence.

Genetic specialists can also support couples who share a family link, known as consanguinity, as this increases the risk of recessive conditions: diseases that appear only when both parents carry the same faulty gene.

At Ferticentro, collaboration between fertility specialists, embryologists, and genetic counsellors ensures that every couple receives a personalised plan that balances innovation with safety and empathy.

Prevention and precision: where IVF is heading

In just a few decades, assisted reproduction has evolved from the fertilisation of a single egg in a laboratory dish to a field shaped by genomic data, artificial intelligence, and personalised medicine.

Mitochondrial donation may still be a topic for the future in Portugal, but it symbolises a broader transformation already underway, one where science not only treats infertility but also helps prevent genetic disease.

Scientific progress in reproductive genetics offers increasingly personalised and effective options. Prevention and diagnostic accuracy now go hand in hand to help families have healthy children and greater peace of mind.

Looking ahead

The future of IVF lies in precision, safety, and compassion. As research continues to advance, couples will have more ways than ever to understand their genetics and make informed, confident choices about building their families.

At Ferticentro, the best technology is always guided by empathy and expertise, ensuring that every new discovery in reproductive genetics translates into real hope for patients.

Frequently asked questions about mitochondrial DNA and IVF

These are some of the questions I’m most often asked by patients when we talk about mitochondrial DNA, genetic testing, and IVF. It’s understandable; the science can seem complex, and many people want to know whether this type of testing might apply to them. Here’s what I usually explain in consultations.

Can mitochondrial problems cause IVF failure?
In most cases, no. The vast majority of IVF failures are not caused by mitochondrial DNA issues. Factors such as egg or sperm quality, embryo chromosomal abnormalities, or uterine factors are far more common. Mitochondrial problems are rare and usually appear in families with a known history of mitochondrial disease.

Should I have my mitochondrial DNA tested before IVF?
For most patients, mitochondrial DNA testing is not necessary. These mutations are very uncommon and are typically linked to families with clear symptoms or a history of mitochondrial disorders. Women with a normal PGT-A result can feel reassured that their embryos have been checked for the most common chromosomal abnormalities that affect implantation and pregnancy.

When is mitochondrial DNA testing recommended?
Mitochondrial DNA testing is considered only when there is:

• A confirmed or suspected maternal mitochondrial disorder
• A known family history of mitochondrial disease
• Previous children affected by a mitochondrial condition

If there are signs that mitochondrial DNA might play a role, a clinical geneticist can recommend specific tests to identify or rule out mutations.

Can PGT-A detect mitochondrial problems?
No. PGT-A (preimplantation genetic testing for aneuploidy) analyses the chromosomes in the cell’s nucleus, not the mitochondrial DNA. Detecting mitochondrial mutations requires a different type of test, called mitochondrial DNA sequencing.

Is mitochondrial donation available in Portugal?
Not yet. Mitochondrial donation is currently approved in only a few countries, such as the United Kingdom. However, research in this field is advancing quickly, and new developments may make it available to patients in Portugal in the future.

What should I do if mitochondrial disease runs in my family?
If there is a known or suspected history of mitochondrial disease, it’s important to mention this to your fertility specialist before treatment begins. At Ferticentro, we work closely with genetic counsellors and clinical geneticists to ensure every patient receives clear guidance, appropriate testing, and a plan that reflects their unique situation.

Does mitochondrial DNA affect how we age or our overall health?
Mitochondrial DNA plays a key role in how our cells produce energy, and some research suggests that mitochondrial function may be linked to ageing and overall cell health. However, these natural changes are very different from the rare inherited mitochondrial mutations that cause disease.

Can lifestyle influence mitochondrial health?
Yes — to some extent. A healthy lifestyle that includes regular exercise, balanced nutrition, and avoiding smoking can support the normal function of mitochondria. While this cannot prevent inherited mitochondrial disorders, it can help maintain general cellular and reproductive health.