“Doctor, If My Embryos Look Healthy, Why Do They Need Genetic Testing?”

It’s a question many couples ask during an IVF consultation.

After weeks of hormone injections, egg retrieval, laboratory fertilisation, and embryo development, hearing about Genetic Testing in IVF (PGT) can feel confusing.

“If the embryo looks perfect under the microscope, isn’t that enough?”

The answer is surprisingly simple.

An embryo can appear healthy on the outside while carrying chromosomal abnormalities that cannot be seen through a microscope.

Think of it like buying a brand-new smartphone. The screen may look flawless, but the internal software determines how well it actually functions. Similarly, an embryo’s appearance tells embryologists about its development, but not necessarily about its chromosomes.

This is where Preimplantation Genetic Testing (PGT) becomes valuable.

Rather than replacing IVF, PGT provides additional genetic information before embryo transfer, helping fertility specialists identify embryos that have the correct number of chromosomes and may have a better chance of leading to a healthy pregnancy in appropriate clinical situations.

At Dr. Kanika Kalyani’s practice, PGT is never recommended routinely for every IVF patient. Instead, it is considered when medical history, age, previous pregnancy outcomes, or genetic concerns suggest that additional genetic information could support better treatment planning.

What Exactly Is Genetic Testing (PGT)?

Preimplantation Genetic Testing (PGT) is an advanced laboratory procedure performed during an IVF cycle.

After fertilisation, embryos are allowed to develop for several days until they reach the blastocyst stage.

At this point, a few cells are carefully removed from the outer layer of the embryo. These cells are sent for specialised genetic analysis while the embryo is safely frozen.

The testing does not involve the part of the embryo that develops into the baby. Instead, it analyses cells that contribute to the placenta, allowing genetic information to be assessed before embryo transfer.

Once the results are available, embryos suitable for transfer are selected based on both embryology assessment and genetic findings.

Different Types of PGT: Understanding the Difference

Many patients believe PGT is a single test.

In reality, there are different types designed for different medical situations.

PGT-A (Preimplantation Genetic Testing for Aneuploidy)

PGT-A checks whether embryos have the correct number of chromosomes.

Chromosomal abnormalities become more common with increasing maternal age and are one of the major causes of implantation failure and miscarriage.

PGT-M (Preimplantation Genetic Testing for Monogenic Disorders)

PGT-M is recommended when one or both partners carry a known inherited genetic disorder such as thalassemia, cystic fibrosis, or certain other single-gene conditions.

The goal is to reduce the risk of passing that specific condition to the child.

PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements)

Some individuals carry balanced chromosomal rearrangements without experiencing health problems themselves.

However, these rearrangements may increase the risk of miscarriage or embryos with chromosomal imbalance.

PGT-SR helps identify embryos that are chromosomally balanced before transfer.

Each type of PGT serves a different purpose, which is why personalised genetic counselling is essential before testing is recommended.

Who May Benefit from Genetic Testing During IVF?

Not every IVF patient requires PGT.

However, it may be considered for individuals or couples with specific clinical indications, including:

• Women of advanced maternal age
• Recurrent IVF implantation failure
• Recurrent miscarriages
• Previous pregnancy affected by chromosomal abnormalities
• Known inherited genetic disorders in the family
• Balanced chromosomal translocations
• Severe male factor infertility in selected situations

The decision is always based on individual medical history rather than age alone.

Can PGT Increase the Chances of Pregnancy?

This is one of the most important questions patients ask.

The answer requires careful explanation.

PGT does not create healthier embryos.

It does not improve egg quality.

It does not guarantee pregnancy.

What PGT can do is help identify embryos that are chromosomally normal for transfer in appropriate patients.

This may help reduce the likelihood of transferring embryos with certain chromosomal abnormalities and may reduce the risk of miscarriage in selected cases.

It is therefore more accurate to say that PGT improves embryo selection rather than directly improving fertility.

Understanding this distinction helps patients develop realistic expectations.

What Happens During the PGT Process?

Many couples imagine PGT as a separate treatment.

In reality, it is integrated into the IVF cycle.

The journey generally includes:

• Ovarian stimulation
• Egg retrieval
• Fertilisation in the IVF laboratory
• Blastocyst development
• Embryo biopsy
• Embryo freezing
• Genetic analysis
• Review of results
• Frozen embryo transfer

Although the timeline becomes slightly longer because embryos are frozen while awaiting results, the additional information can be valuable in carefully selected patients.

Is Embryo Biopsy Safe?

One of the biggest concerns couples have is whether removing cells from the embryo could cause harm.

Modern embryo biopsy is performed using advanced laboratory techniques by experienced embryologists.

Only a small number of cells are removed from the outer layer of the blastocyst, while the embryo is then cryopreserved until genetic testing is complete.

Although no medical procedure is completely without risk, embryo biopsy has become a well-established part of IVF treatment in appropriately selected patients when performed by experienced laboratory teams.

PGT Is About Better Information—Not Perfect Outcomes

Perhaps the biggest misconception surrounding genetic testing is that it guarantees the birth of a healthy baby.

Unfortunately, no medical test can provide that promise.

Pregnancy depends on many factors beyond chromosomes, including uterine health, embryo implantation, maternal health, hormonal balance, and pregnancy development.

PGT simply adds another important piece of information to help fertility specialists choose embryos more confidently in patients who are likely to benefit from testing.

It supports decision-making.

It does not replace it.

Why Personalised Counselling Matters Before Choosing PGT

Genetic testing is one of the most advanced developments in reproductive medicine, but it is not appropriate for every IVF cycle.

Some patients clearly benefit.

Others may achieve excellent outcomes without it.

Dr. Kanika Kalyani believes every discussion about PGT should begin with understanding:

• Your reproductive history
• Previous IVF outcomes
• Family medical history
• Genetic risks
• Age
• Future pregnancy goals

Only after a detailed evaluation can the advantages and limitations of genetic testing be explained clearly, allowing patients to make informed decisions.

Frequently Asked Questions