You may be considering IVF because a specific genetic condition is known in you, your reproductive partner or your family, even if fertility has never been a concern. Sometimes this is an option people have known about for some time; sometimes it becomes relevant unexpectedly.
IVF, or in vitro fertilisation, is a process in which eggs are collected and fertilised with sperm in a laboratory to create embryos.
Preimplantation genetic testing for a monogenic condition, usually called PGT-M, is a type of embryo testing used with IVF. It can test embryos for the specific genetic change known in your family before an embryo is considered for transfer, reducing the chance of passing on that condition.
Understanding what PGT-M can and cannot offer, whether it may be possible for the genetic change in your family, what IVF involves, and where different kinds of information and support can help may make this pathway easier to navigate.
Some people decide to explore PGT-M and others do not.
What feels right may be shaped by many things, including your experience of the condition, your own health, family circumstances, values, the treatment involved, access and cost.
If you are still considering different ways of building or growing your family, you may want to explore the broader reproductive options before deciding whether to investigate PGT-M.
Explore reproductive options when a genetic condition is involved →
PGT-M is used with IVF to test embryos for the specific single-gene change already known in your family before an embryo is considered for transfer. This can reduce the chance of passing on that specific condition.
PGT-M is designed around the known family genetic change. It does not test an embryo for every possible genetic or health condition.
PGT is an umbrella term for several types of genetic testing on embryos.
PGT-M tests embryos for a specific single-gene change already known in a family. This is the type of testing described on this page.
PGT-SR is used when a structural chromosome rearrangement is known in a family, such as a translocation. If your family result involves a chromosome rearrangement rather than a single-gene change, this may be the relevant type of embryo testing.
PGT-A screens embryos for extra or missing chromosomes. It answers a different question and does not replace PGT-M or PGT-SR when the aim is to test for the specific genetic change or chromosome rearrangement known in your family.
A fertility clinic may discuss PGT-A separately or alongside other testing. You can ask why it is being suggested, what question it is intended to answer and what it can and cannot tell you.
Older terms you may see: PGD, or preimplantation genetic diagnosis, was commonly used for embryo testing for a specific genetic condition. PGS, or preimplantation genetic screening, was commonly used for chromosome screening now generally called PGT-A.
Your genetics and fertility team can explain which type of embryo testing is relevant to your specific genetic result.
The process usually starts with a clinical genetics service or genetic counsellor reviewing the diagnosis and family genetic report.
The name of the condition alone may not be enough. The report may name the gene and the specific genetic change, sometimes called a variant, that the laboratory needs to assess.
A fertility clinic and PGT-M laboratory can then work out whether a reliable family-specific test can be developed. They may need reports, samples or information from relatives. This preparation can take time.
If you do not have the genetic report, ask the service or clinician who arranged the testing whether a copy can be provided.
If IVF becomes part of your plans because of a genetic condition, you may find yourself in a fertility service even though infertility is not what brought you there.
The language, appointments and treatment may be centred around infertility, which may not reflect your reason for being there or how you expected family planning to look.
For some people, having PGT-M available creates another reproductive option or a greater sense of choice. For others, deciding whether to use it can itself bring complicated feelings or questions.
The process can involve treatment, waiting and uncertainty about whether embryos will be available for testing or transfer. People can experience this in very different ways, and partners may not always feel the same about each stage.
People may also use different language when talking about the genetic condition and PGT-M, particularly if they or someone they love lives with the condition. You can let your genetics or fertility team know what language feels appropriate and respectful to you.
Genetic counselling or fertility counselling can provide space to explore the practical and emotional parts of the process if that would be helpful.
Genetic and medical information can help explain inheritance, possible health needs, treatment and what remains uncertain. It may not give you a complete picture of what living with the condition can look like.
Condition-specific organisations and people with lived experience can add another kind of knowledge. This might include everyday life, the diversity of experiences within the condition, practical realities, support and community.
If you live with the condition yourself, or know it closely through your family, your own experience may also be an important part of what matters to you.
Neither clinical information nor another person’s experience can predict exactly what a future child’s experience would be. People living with the same condition may also have very different experiences and different views about reproductive choices.
You can choose whether, when and how much lived-experience information feels useful to you.
The genetic result is reviewed and the laboratory assesses whether PGT-M can be offered for that specific change. The laboratory may need reports or samples from relatives, and preparation can take time.
The fertility team assesses the person providing the eggs and, where relevant, the sperm provider. IVF treatment usually involves medicines to stimulate the ovaries, monitoring, egg collection and fertilisation in the laboratory, even when there has been no history of infertility.
Embryos that develop far enough for testing can have a small number of cells removed and tested for the genetic change known in the family. In many pathways, embryos are frozen while the genetic testing is completed.
The clinic explains the embryo-testing results and which embryos, if any, may be considered for transfer. The exact timing and order of these stages can vary between services.
The number of embryos available can reduce at several stages.
Not every egg fertilises or develops into an embryo that can be tested, and some embryos may have inherited the genetic change being tested for.
Depending on the condition and your individual circumstances, this can mean there are fewer embryos available for transfer than you may initially expect.
Some people need more than one IVF cycle before an embryo is available for transfer.
PGT-M can reduce the chance of passing on the specific family condition, but it does not guarantee a pregnancy.
Your fertility and genetics team can explain what is known about your individual circumstances, what factors may affect the pathway and what options may remain if a cycle or test does not progress as hoped.
You can take these questions to your genetic counsellor, genetics service, fertility specialist or fertility clinic.
Different kinds of support can be useful at different points. You may want one type of support, several, or none.
Can help you understand the genetic result, how the condition may be inherited, what PGT-M can and cannot tell you, and the reproductive options that may be relevant to your circumstances. Genetic counselling supports you to make your own decisions.
Can support you through the practical and emotional parts of IVF and PGT-M, including treatment, waiting, uncertainty, relationships and decisions about whether to continue or stop treatment.
Can provide lived-experience information about everyday life with the condition, the range of experiences, practical support and connection with people and families who live with it. This can add a different kind of knowledge alongside the clinical and genetic information you receive. Other people’s experiences cannot predict an individual child’s future.
You may also want other emotional or mental health support. Your GP, fertility service or genetics team can help you find counselling, psychology or other appropriate support.
Partners may experience decisions and treatment differently. Counselling can involve you together or separately, depending on what is most helpful.
Find a fertility counsellor through ANZICA →
Find a condition-specific organisation through GAA →
Community and peer connection for people and families navigating IVF and other assisted reproductive treatment.
EXTERNAL LINK | VERIFY BEFORE PUBLICATION: Explore ARTFam →
Peer networks for people going through IVF, including people navigating fertility treatment because of genetic concerns. Its broader resources are largely infertility-focused, so not everything may feel relevant to your experience.
EXTERNAL LINK | VERIFY BEFORE PUBLICATION: Explore Access Australia peer support →
Lived experience of the genetic condition itself can offer a different perspective from lived experience of IVF. A condition-specific organisation may be able to connect you with people and families who know the condition firsthand, including, in some cases, people who have considered or used PGT-M themselves.
Different people living with the same condition may make very different reproductive choices. Connecting with others can offer perspectives and practical insight, but it does not tell you what choice is right for you.
A Genetic Health Navigator can help you prepare questions, find reliable information and identify relevant genetics, fertility, condition-specific or support services.
GAA cannot assess whether PGT-M is technically possible, interpret embryo results, provide medical advice or advise whether PGT-M is the right reproductive option for you.
