Genetic Testing in IVF: Benefits and Risks

When a couple goes through IVF, the goal is straightforward: a healthy pregnancy and a healthy baby. But not every embryo created in the lab has the same chance of getting there. Some carry chromosomal problems that will stop implantation, cause a miscarriage, or result in a child born with a serious condition. The question is whether you find this out before or after the embryo is transferred.

This is where genetic testing in IVF comes in. It is a set of tests done on embryos before they are placed in the uterus. It does not guarantee success. But for many couples, it changes what is possible and reduces the heartbreak of failed cycles and pregnancy loss.

What is Genetic Testing in IVF?

In IVF, genetic testing is done through PGT (Preimplantation Genetic Testing). In this procedure, a few cells are removed from the embryo on day five of development and sent to a genetics lab. The embryo is frozen while results come back, which takes about 1-2 weeks. There are three types:

PGT-A checks whether the embryo has the right number of chromosomes. Embryos with too many or too few chromosomes, called aneuploid embryos, usually fail to implant or end in miscarriage. Down syndrome, for example, is caused by an extra chromosome 21.

PGT-M tests for specific inherited conditions like thalassaemia, sickle cell anaemia, cystic fibrosis, or spinal muscular atrophy, when one or both parents carry the gene. Thalassaemia is worth mentioning specifically here. Carrier rates in certain Indian communities are notably high, and PGT-M gives these couples a way to have an unaffected child through IVF.

PGT-SR is used when a parent carries a chromosomal rearrangement, such as a translocation, that can produce abnormal embryos even though the parent is healthy.

Who Should Consider PGT Testing in IVF?

PGT testing in IVF is not for every couple. It is suggested in specific situations where there is a higher risk of a genetic problem.

1. Women over 35: Egg quality drops as women age. The rate of chromosomal errors in embryos also goes up suddenly. By 40, a large proportion of embryos are chromosomally abnormal. PGT-A helps identify which ones are not.
2. Couples with repeated miscarriages: Two or more losses often point to chromosomal problems in the embryo. PGT-A screens for this before transfer.
3. Known carriers of a genetic condition: If both partners carry the thalassaemia gene, for example, each embryo has a 1-in-4 chance of being affected. PGT-M finds the unaffected embryos before transfer.
4. Repeated IVF failure: When good-looking embryos have been transferred across multiple cycles with no success, chromosomal abnormality is often the explanation that was not looked for. PGT-A can help with the next cycle.
5. Men with very low sperm count: Severely low counts are sometimes linked to genetic deletions that can be passed to male children. Testing may be recommended alongside IVF in these cases.

Benefits of Genetic Testing Before IVF

For couples who genuinely need it, the benefits of genetic testing before IVF are real.

• Better implantation rates: Transferring a chromosomally normal embryo has a better chance of implantation. This matters most for older women, where the ratio of abnormal to normal embryos is higher.
• Fewer miscarriages: Most early miscarriages are caused by chromosomal errors. When we pick tested embryos, this cuts down the risk.
• Fewer cycles: Rather than transferring embryos one by one in multiple attempts, PGT-A helps identify the best one to transfer. This can reduce the total number of cycles. 
• Preventing serious disease: If the couple carry conditions like thalassaemia or sickle cell anaemia, PGT-M makes it possible to have a child who is not affected. It is something that would not be possible with natural conception, where there can be a significant risk.
• More clarity: Knowing the genetic status of embryos gives couples something to work with. For many, it reduces some of the uncertainty that makes IVF so hard emotionally.

Risks of Genetic Testing in IVF

The risks of genetic testing in IVF are real, and they deserve an honest look.

• The biopsy can harm the embryo: Removing cells from an embryo is a delicate procedure. In skilled labs, the damage rate is low, still not zero. Some embryos do not survive the biopsy or the freeze-thaw process.
• Results are not always clear: Some biopsies come back inconclusive, i.e., there is no usable result. The couple then has to decide whether to transfer that embryo without genetic information or leave it aside, neither of which feels good.
• Not everything is detected: PGT-A checks chromosome numbers. It does not screen for every preexisting genetic condition. A normal PGT-A result means the chromosome count is correct, nothing more.
• Mosaicism is complicated: Some embryos have a mix of normal and abnormal cells, called mosaicism. These embryos are hard to classify. Some go on to become healthy babies. Some do not. The guidance on what to do with mosaic embryos is still not settled.
• The cost adds up: PGT is not cheap. In India, adding PGT to an IVF cycle can cost more, depending on the type and number of embryos tested. For couples who already have very few embryos, it may not always make sense.
• Hard news is still hard: Some couples find out that most or all of their embryos are abnormal. That is a painful thing to know. Some people find it harder to receive this information than to have transferred with hope. There is no wrong answer; it is a personal decision.

Questions to Ask Before Deciding

Before going ahead with PGT testing in IVF, have a direct conversation with your fertility doctor:

• Am I actually a good candidate for PGT given my age, embryo numbers, and medical history?
• Which type of PGT do you recommend and why?
• What does your lab's track record with embryo biopsy look like?
• What do we do if every embryo comes back abnormal?
• Is the added cost justified in our specific situation?

A good fertility specialist will not push PGT as a routine addition. They will recommend it when there is a clear reason, and be honest about what the results will and will not tell you.

Book an online appointment with Dr. Shalini M A for Fertility related issues.

Conclusion

Genetic testing in IVF is not a magic fix. But in the right situations, like repeated miscarriage, known carrier status, older maternal age, and unexplained IVF failure, it gives couples far more to work with. It reduces guesswork, cuts down on failed cycles, and in some cases makes a healthy pregnancy possible when it might not have been otherwise. Talk it through with your specialist and go in with clear expectations.

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