Genetic Testing

IVF Genetic Testing

During IVF, it’s possible to examine the DNA of embryos before they’re transferred to a woman’s uterus. This is called preimplantation genetic testing, or PGT for short, and it allows us to check for a range or problems that could cause failed implantation, miscarriage and even birth defects.

IVF genetic testing can help us detect abnormalities such as missing or extra chromosomes in the embryo, single gene disorders (that could cause conditions such as sickle cell anaemia), or genetic rearrangements that could lead to birth defects.

Spotting these problems early means we can avoid implanting affected embryos, reducing the risk of issues later on.

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What is genetic testing in IVF?

Preimplantation genetic testing during IVF allows us to ensure we only transfer healthy embryos with a better chance of birth success. It can eliminate the risk of a range of birth defects, and reduce the likelihood of miscarriage.

There are two different types of IVF genetic testing that we offer – preimplantation genetic testing for aneuploidy (PGT-A) and preimplantation genetic testing for a monogenic disease (PGT-M).

Is genetic testing necessary for IVF?

Not every couple going through IVF will need to undertake genetic testing. If we have no reason to believe your embryos are more at risk of genetic mutations – such as in women with previous miscarriages, older women or couples with a family history of certain conditions – genetic testing doesn’t need to happen before you can proceed.

There is also no guarantee that embryos screened during genetic testing will result in a successful pregnancy, although it may reduce the time it takes to get pregnant as only genetically normal embryos are transferred, and therefore more likely to implant.

What are the different types of IVF genetic testing?

The two genetic tests we offer both look for different things within the embryo. Your fertility consultant may recommend PGT-A if you’ve had previous instances of failed embryo implantation or miscarriages, or are over the age of 35. PGT-M can be used if you and/or your partner carry a heritable genetic disease.

Preimplantation genetic testing for aneuploidy: PGT-A

Aneuploidy is when there is a missing, or extra, chromosome in an embryo or cell. It is one of the main causes of failed embryo implantation, and can lead to major birth defects such as Down syndrome and Turner syndrome in a child.

PGT-A tests for this. It analyses embryo cells to check if there are 46 chromosomes, the amount most people carry, with 23 coming from each parent. If an embryo is missing a chromosome, that’s called monosomy, while an extra chromosome is called trisomy.

PGT-A is best suited for the following people:

Couples with previous experience of aneuploidy
Women over the age of 35
Women who’ve had unsuccessful fertility treatment before
Women who’ve had more than two miscarriages
Women who’ve previously experienced failed embryo implantation

Preimplantation genetic testing for a monogenic disease: PGT-M

With PGT-M, we look for particular genetic mutations that we know already exist in either of the parents. If you have a family history of genetic conditions, there is a greater chance of it being passed on to your child. Preimplantation testing identifies affected embryos so any embryos transferred are known to be healthy..

PGT-M can help prevent conditions such as Huntington’s disease, sickle cell anaemia, cystic fibrosis and muscular dystrophy.

If you have a history of genetic conditions within your family, your fertility specialist may well advise this course of action.

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What is the process for genetic testing?

Genetic testing for IVF is an eight-step process that takes place as part of a regular IVF cycle.

Step 1
1
Your ovaries will be stimulated
We’ll artificially stimulate your ovaries to produce several eggs for testing
Step 2
2
Your eggs will be collected
When the time is right, we’ll retrieve your eggs and inspect them to see which ones are mature and suitable for screening.
Step 3
3
Insemination
The extracted eggs will be injected with sperm.
Step 4
4
Fertilisation
On the day after insemination, we’ll check to see if fertilisation has taken place.
Step 5
5
Embryo biopsy
Successfully fertilised eggs will be grown in a laboratory for around one week, allowing the embryos to form. We’ll then extract the cells that will go on to form the placenta. This should not harm the embryo in any way, and will be carried out by a specialist embryologist.
Step 6
6
Testing the embryos
The removed cells are tested for any abnormalities.
Step 7
7
Embryo transfer
Only the embryos that have shown no abnormalities during our genetic screening will be transferred to the woman’s uterus. We’ll transfer one embryo at a time, and freeze any other unaffected embryos for potential later use.
Step 8
8
The pregnancy test
Twelve days after we’ve transferred the embryo, you will be given a pregnancy test to see if your embryo has successfully implanted.

How much does PGT-A cost?

The cost of genetic testing depends on whether you need PGT-A or PGT-M, and what other stages of IVF you’re going through. Take a look at all our pricing options to get a clearer idea of costs.

Does PGT-A testing improve IVF success?

PGT-A testing can improve pregnancy outcomes. This is because it highlights the healthiest embryos, meaning we only implant the ones most likely to result in a successful birth.

While a large scale survey has yet to be carried out, initial findings across fertility clinics suggest there is a noticable decrease in the number of miscarriages after PGT-A testing.

HFEA comment

Are there any risks associated with PGT-A?

There is a possible but unquantified risk that removing cells from an embryo may damage it and prevent it from developing. However, the first births following embryo biopsy for genetic screening were reported in 1990 and since then, thousands of children have been born, and health risks following embryo biopsy have not been identified as different from IVF/ICSI pregnancies in general.

The necessary freezing and thawing of embryos is highly successful, with a survival rate of over 95% after thawing. There is, however, a small risk that the embryo will not survive the process.

What is the evidence for PGT-A?

The independent regulator of fertility treatment, the Human Fertilisation and Embryology Authority (HFEA), has developed a ‘red-amber-green’ rating system and provides information on their website about treatments that are offered on top of your routine fertility treatment – known as treatment add-ons. They consider that the only way to be confident that a treatment is effective enough to be used routinely is to carry out a randomised controlled trial (RCT). In an RCT, patients are assigned randomly to two groups: a treatment group, given the new treatment and a control group, given a well-tried treatment or a placebo.

The HFEA has given PGT-A a red rating because it considers that there is no evidence from such trials that PGT-A increases the overall chances of having a baby. There is information on the HFEA website about PGT-A that you may find useful to consider.

The Zita West Clinic is part of the CARE Fertility group, and CARE did participate in a large scale RCT called the STAR trial, which was published in December 2019. This trial concluded that there was a significant increase in pregnancy rate in a subset of women aged 35–40 where they had more than two embryos available for testing, although overall in all age groups there was no increase in ongoing pregnancy. However, we recognise that that more robust clinical and laboratory trials are needed to prove whether or not PGT-A significantly increases live birth rates.

It is important to understand that PGT-A will not increase your overall chances of having a baby, although it may shorten your time to pregnancy by helping us select the best embryo sooner. For more information, please speak with our team, who will give you detailed patient information documents which outline all the relevant points about PGT-A, or you can visit the HFEA website.

Is PGT-A right for me?

Whether you wish to put your embryos through genetic screening is a decision for you and your fertility specialist to make together. However, there are some women who will benefit from it more than others.

If you’ve had previous experiences of aneuploidy – when you have an incorrect number of chromosomes in your embryos – PGT-A testing could reduce your risk of it happening again. The same is true for women who’ve been unsuccessful with fertility treatment in the past, have failed with embryo implantation, or have suffered from two or more miscarriages.

Want to discuss genetic testing for IVF further?

Get in touch with one of our dedicated IVF advisers for more information on this, and how we can help you conceive.

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At Zita West Clinic, we understand that each individual person needs an individual approach to starting a family. From the moment you walk through our door, you will receive personalised and comprehensive guidance and advice to help you through your fertility journey: the future of your family starts here.

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IVF Genetic Testing

What is genetic testing in IVF?

Is genetic testing necessary for IVF?

What are the different types of IVF genetic testing?

Preimplantation genetic testing for aneuploidy: PGT-A

Preimplantation genetic testing for a monogenic disease: PGT-M

What is the process for genetic testing?

Step 1

Your ovaries will be stimulated

Step 2

Your eggs will be collected

Step 3

Insemination

Step 4

Fertilisation

Step 5

Embryo biopsy

Step 6

Testing the embryos

Step 7

Embryo transfer

Step 8

The pregnancy test

How much does PGT-A cost?

Does PGT-A testing improve IVF success?

HFEA comment

Are there any risks associated with PGT-A?

What is the evidence for PGT-A?

Is PGT-A right for me?

Want to discuss genetic testing for IVF further?

Who we help

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