Pre-Implantation Genetic Testing (PGT)

Depending on your age and fertility and medical history, PGT can be an essential consideration before embryo implantation. While genetic testing doesn’t change the inherent quality of embryos, it can support the selection process and provide vital insights into embryo health and inherited conditions. Our fertility experts can guide you through the process with clarity and compassion, supporting you in making informed decisions about genetic testing.

Preimplantation genetic testing Edinburgh

Pre-Implantation Genetic Testing (PGT)

Depending on your age and fertility and medical history, PGT can be an essential consideration before embryo implantation. While genetic testing doesn’t change the inherent quality of embryos, it can support the selection process and provide vital insights into embryo health and inherited conditions. Our fertility experts can guide you through the process with clarity and compassion, supporting you in making informed decisions about genetic testing.

What is PGT and How Does it Work?

PGT involves taking a few cells from the developing embryo and performing genetic analysis on these before any embryo transfer takes place.

There are three types of PGT, which are performed for very different reasons.

Pre-Implantation Genetic Testing for Aneuploidy (PGT-A)

PGT-A assesses whether your embryos have the correct chromosome complement.

Embryos which have an extra chromosome or a missing chromosome are called ‘aneuploid’, and these will either not implant or may result in an early miscarriage and thus would be avoided for transfer. An embryo with a normal chromosome complement is called ‘euploid’, and these would be preferentially selected for transfer.

Pre-Implantation Genetic Testing for Structural Rearrangements (PGT-SR)

A small number of patients have a known structural chromosome rearrangement that has been diagnosed by a clinical genetics team. These patients may experience difficulty conceiving or recurrent pregnancy loss.

PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements) is used to identify embryos with the specific chromosomal arrangement previously diagnosed in the patient, helping to inform embryo selection for transfer.

Pre-Implantation Genetic Testing for Monogenic Disease (PGT-M)

A small number of patients may carry a known gene variant that has previously been identified by a clinical genetics team. Examples of conditions caused by a single gene defect include cystic fibrosis and Huntington’s disease.

PGT-M enables embryos to be tested for the specific genetic condition, helping to avoid the transfer of embryos that have inherited the affected gene.

How Do I Know if I Need Pre-Implantation Genetic Testing?

Genetic testing can provide us with valuable insights into embryo quality. While genetic testing isn’t necessary for every IVF case, it can be recommended for individuals and couples:

  • For couples who have a history of miscarriage or recurrent pregnancy loss
  • For women of advanced maternal age
  • If there is a family history of inherited genetic disorders
  • For individuals and couples who have experienced multiple failed implantation attempts

The Pre-Implantation Genetic Testing Process Step by Step

  • Counselling:

    Patients who are undergoing PGT-M or PGT-SR to avoid transferring an affected embryo will all have appointments with the genetic counsellor before genetic testing of their embryos. They’ll help you understand exactly what happens and the potential implications of the tests. In addition, support counselling is available to all patients receiving treatment at Genus Fertility, if they wish.

  • The fertility treatment pathway:

    You’ll undergo the standard IVF or ICSI treatment process. First, you’ll have hormone injections that stimulate the ovaries to produce multiple eggs, followed by egg collection. The eggs are then fertilised in the laboratory with your partner’s or a donor’s sperm, either through conventional IVF or ICSI.

  • Embryo development:

    Your embryos will develop for up to six days until they reach the blastocyst stage, with our embryology team carefully monitoring their progress. At the appropriate time, they will carry out a biopsy to remove cells from each embryo. These cells are taken from the trophectoderm, which forms the placenta, and there is a very low risk of harm to the embryos.

  • Embryo biopsy and genetic testing:

    If the embryo reaches a fully developed blastocyst, we perform embryo biopsy to remove a few cells, which are then sent for genetic testing. The embryos are then frozen until we wait for the test results, which usually take a couple of weeks. Once the results are known, an embryo transfer can be planned if genetic testing has highlighted that there are embryos suitable for transfer.

FAQs

Genetic testing involves taking a biopsy, which means removing a number of cells. At the time of the biopsy, the developing embryo has approximately 100 cells, and two types of tissue are developing.

The trophectoderm (TE) is the outer layer of the embryo and will eventually form the placenta. The inner cell mass (ICM) is the clump of cells in the centre of the embryo that will eventually form the baby. Our embryologist will take a biopsy of trophectoderm cells, and it is not thought to result in an increased risk for birth defects or damage to the future baby.

  • There is a risk that some embryos may not develop to the stage required for biopsy and therefore cannot be tested. Transfer of an untested embryo may be considered in some cases of PGT-A, but not for those having PGT-M or PGT-SR.
  • In some cases, the biopsied cells may not yield sufficient DNA for analysis, resulting in a ‘no result’ outcome.
  • Although PGT is highly accurate, there is a small risk of misdiagnosis, meaning the test result may not accurately reflect the genetic status of the embryo.
  • PGT results may show that the embryos are mosaic, which means they contain a mixture of cells with normal and abnormal chromosome numbers, making their reproductive potential and likelihood of resulting in a healthy pregnancy less predictable.
  • Not all embryos will be suitable for transfer following testing, which may reduce the number of embryos available for treatment.

Start your journey with Genus Fertility today.

If you’re looking for a clearer picture of your fertility health or you’re ready to start a family, we’d love to hear from you.

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EH22 1FD
Edinburgh

T: 0131 374 4855

E: reception@genusfertility.co.uk

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QUICK LINKS

Fertility Assessments CROSS V2
Fertility Treatments CROSS V2
Fertility Preservation CROSS V2
Book Online CROSS V2
Genus Fertility

GENUS FERTILITY

Genus Fertility
Three Wester Shawfair
EH22 1FD
Edinburgh

T: 0131 374 4855

E: reception@genusfertility.co.uk

PRIVACY POLICY

© 2026 Copyright Genus Medical Fertility, all rights reserved