Genetic Testing at Fertility Clinics – When Is It Necessary?

PGT

The aim of PGT is to ensure a the quickest time to pregnancy by testing embryos for chromosomal abnormalities and ensuring those are not placed into the uterus. In essence, cells can be taken from a developing embryo on the fifth day after fertilisation. These cells are sent to the genetic laboratory and tested for abnormalities.

PGT-A

These tests can detect chromosome abnormalities or chromosomal rearrangements.

Without this kind of testing, embryos are usually chosen based on their visual appearance. Even then, we use the most advanced technology: the EmbryoScope™ time-lapse system, which provides superior image quality, allowing our embryologists to distinguish normal developing embryos with good implantation potential from those with development patterns that indicate a risk of implantation failure.

With PGT embryo testing, however, embryos are further assessed based on their full chromosome complement. During the procedure all 23 sets of chromosomes are examined to ensure we have the correct number of chromosomes, before the embryo transfer takes place.

PGT-M

This is a laboratory procedure used in conjunction with IVF to help detect single gene diseases. Families affected by an inherited disease can reduce the risk of passing it onto their offspring using IVF with PGT-M

Are there risks?

As with all medical procedures, there may also be a risk to the embryo, as the procedure involves removing from the embryo five little outer cells that will become part of the placenta later. But this risk is substantially reduced when performed by professional, experienced embryologists using the latest advanced technology, as we have at Cape Fertility.

When is genetic testing used?

During a recent interview with Fertility Solutions, our own Dr Sulaiman Heylen, one of the directors of Cape Fertility, and one of the best-known reproductive medicine specialists in the country, shed some light on when genetic testing is used during fertility treatment.

He says that genetic testing is usually not used to identify the causes of infertility. “Genetic testing is not part of routine fertility testing, but we do it when we’ve got a specific reason.

“So, if you come to see us at Cape Fertility because you have been trying to have a baby for three years, genetic testing is not going to be a first recommendation. Instead, we may do genetic testing because we recognise a possible symptom of a genetic abnormality, for example, a female partner with very early menopause.

“We also use genetic testing for couples experiencing recurrent pregnancy loss. For example, one possible cause of recurrent miscarriages is translocation, which refers to a genetic change in which a piece of one chromosome breaks off and attaches to another chromosome, or pieces from two different chromosomes will trade places with each other. This can affect both the male and female partner, and it can be detected through genetic testing.

“We may also do genetic testing when a couple has had multiple miscarriages, occurring during a similar time frame in each pregnancy.

“Genetic testing is also particularly useful in older women or couples who have previously had repeated failed IVF cycles. Genetic testing allows us to choose embryos with a normal number of chromosomes for embryo transfer, and these embryos are more likely to result in a pregnancy.”

“Most importantly, genetic testing is used for carrier testing,” says Dr Heylen. “This is because the majority of people, up to 70% of people, are carriers of a genetic abnormality. If both partners are carriers of the same genetic abnormality, the chances of having a child with a genetic problem is concerning. Genetic labs can test for over 400 different genetic abnormalities, and this testing is going to become more and more common.”

In a recent interview https://youtu.be/PoVJbrcPA4k?si=-Dl4TGs-2oA1-89P, Dr Jo Pottow – a Reproductive Medicine Specialist at Cape Fertility – also offered some insights into when genetic testing is used.

“What genetic testing tells is whether an embryo is normal, with 23 sets of chromosomes. The next question is: do they work normally? The uterus will tell us that, because if they don’t, implantation is far less likely,” says Dr Pottow.

Reduced time to pregnancy

“What the research and literature tell us about genetic testing is true: it doesn’t change the outcome, if there is no normal embryo in a batch, even if you test it and it has a normal amount of chromosome, it doesn’t mean you will have a baby, just because it has 23 sets of chromosomes. You’re not going to suddenly have a baby because of genetic testing.
But what the research is clear about is that genetic testing can reduce your time to pregnancy. And for me, reducing the time it takes to achieve a pregnancy is crucial.

“For example, if you are undergoing IVF and you’ve got five embryos, we could place one embryo at a time, once a month. That, however, is going to take five months and five treatments to try all these embryos, and they could all be abnormal – which means five months and five procedures later and no pregnancy, which is extremely stressful for a couple who may be in a race against time, and finite budgets.

“If instead, we genetically test the embryos and discover they are all abnormal, it will still be devastating, but at least we’re not wasting time as well transferring one embryo each month that has little chance of implanting. Instead, we could collect a new batch of eggs and start again.

“Genetic testing is also useful in other specific instances, for example, if you have a genetic disorder in your family, and you don’t want to pass it on to the next generation.”
Dr Pottow says that if you have issues against genetic testing, you don’t have to do it: it’s not going to change the outcome. It’s not going to turn abnormal embryos into normal embryos or normal embryos into abnormal ones.

“It really is a personal choice for each couple to make – you are the only ones that can determine if you are prepared to wait and see if the embryo implants, or if you are going to genetically test first – the outcome will remain the same. However, it is also important to remember that genetic results are not so black and white, and while a normal embryo substantially improves the chances of successful implantation, it doesn’t guarantee a pregnancy.”

Which fertility clinics offer advanced genetic testing?

At Cape Fertility, we continuously invest in high quality technology. We have access to many technologies that are not available in standard IVF clinics, and therefore we can offer superior service.

Your first step to understanding if genetic testing is a suitable procedure for your fertility challenges, is simply to contact us by clicking here…

At Cape Fertility, we value each individual patient and we look forward to providing you with individualised and personalised care, affordable quality fertility treatment, and higher success rates at our purpose-built premises in the beautiful city of Cape Town.