You may live with a genetic condition, know that you or your partner is a carrier, or have learned that a condition in your family could be relevant to your plans. Sometimes this information is expected; sometimes it is not.
Understanding the specific genetic information can help clarify what it may mean for you, your partner and a future pregnancy, and which reproductive options may be available.
If someone in your family has had genetic testing, try to obtain a copy of the laboratory report rather than relying only on the name of the condition. The report may name the gene and the specific genetic change, sometimes called a variant, or describe a chromosome change.
This detail can matter because the same condition can have different genetic causes, general carrier screening may not include the change identified in your family, and some reproductive tests need the specific family result.
If no report is available, write down what you know, including who was affected, the diagnosis, the service or hospital involved and whether testing was performed. A genetics service can advise what may be useful next.
If the diagnosis or genetic testing was completed some years ago, ask whether the information should be reviewed before making reproductive decisions. Testing methods and interpretation change over time, and a genetics service can advise whether updated testing or reanalysis may be useful.
For some people, having a genetic condition, or being a carrier of some conditions, can also be relevant to their own health during pregnancy, including medicines or treatments, fertility treatment, anaesthesia or birth. A pre-pregnancy review with the relevant specialist, maternity team or genetics service can help identify any additional care you may need.
If you take regular medicines or receive condition-specific treatment, ask whether anything needs review before pregnancy or fertility treatment. Do not stop prescribed medicines without medical advice.
This review may be useful even if you do not want genetic testing for a pregnancy.
Genetic counsellor
Can help you understand the family genetic information, what it may mean for you or a pregnancy, and which testing or reproductive options may be relevant.
Clinical genetics service
Can review a diagnosis or genetic result, arrange or advise on appropriate genetic testing, and provide specialist medical genetics advice.
GP, fertility specialist or maternity team
Can help with your general health and care, make referrals and coordinate with genetics services where needed.
See Finding genetics, navigation and other support for a fuller guide to who does what →
Genetic and medical information can help explain inheritance, health needs and uncertainty, but it may not show the full picture of daily life. If it would be useful, a condition-specific organisation can help you hear from people and families with lived experience and understand the range of ways a condition may affect people.
Lived experience should sit alongside, rather than replace, advice about your own health, pregnancy and genetic result. It cannot predict one person’s experience and should not be used to direct a reproductive decision.
For some conditions, the same genetic change can affect relatives differently. Ask the genetics team what is known about the range of possible effects and what cannot be predicted before pregnancy or birth.
Find a condition-specific organisation through Genetic Alliance Australia →
Unique: rare chromosome and gene disorder guides and family resources →
There is no single right pathway. Some options may not be relevant or available in every situation, and what feels right for one person or family may be different for another. You may want to explore one option, several options, or none.
Some people choose to become pregnant without testing specifically for the genetic condition known in their family.
Depending on the condition, you may want to discuss pregnancy care with your healthcare team, learn more about what care or support a child might need, or connect with people and families who have lived experience of the condition.
If the specific genetic change in your family is known and a suitable test is available, chorionic villus sampling or amniocentesis may be able to test for that change during pregnancy.
People consider this testing for different reasons. The information may help with preparing for a child’s care, planning pregnancy or birth care, or making decisions about the pregnancy.
IVF, or in vitro fertilisation, is a process in which eggs are collected and fertilised with sperm in a laboratory to create embryos. Some people use IVF with a type of embryo testing called preimplantation genetic testing for a monogenic condition, or PGT-M. It can be used to look for a specific genetic change known in the family before an embryo is considered for transfer.
Whether PGT-M is possible depends on the specific genetic result and laboratory assessment.
Read about IVF with PGT-M and what is involved →
Some people consider donor eggs, sperm or embryos as another way of building a family when a genetic condition is relevant. Depending on the circumstances, using a donor may reduce the chance of passing on the specific genetic condition.
There can be more to consider than the genetic condition itself. This may include what screening the donor has had, what genetic information will be available, the future child’s access to information about their donor, and how donor conception may become part of your family’s story.
Counselling is an important part of donor conception and can help you explore the implications for you, your family and a future donor-conceived child. Requirements, donor arrangements and access to information vary between states and territories and between fertility services.
Fertility Society of Australia and New Zealand: donor conception and donor programmes →
ANZICA: find a fertility counsellor with donor-conception experience →
Donor Conceived Australia: information and lived-experience perspectives on donor conception →
FUTURE / PLACEHOLDER LINK: state and territory donor-conception information and registers →
Some people decide not to have children, or not to grow their family further.
This may feel like the right choice for you, or it may be different from what you had previously imagined or planned. If you want support to think through the decision or what it means for you, a genetic counsellor, fertility counsellor or other counsellor can provide a space to talk without directing your choice.
Finding genetics, navigation and other support →
Family-planning decisions can involve more than the chance of passing on a genetic condition. You may also want to think about your own health, the care and support needs already within your family, the practical demands of appointments or fertility treatment, work and finances, your support network, and how you and your partner or family are feeling about the options.
These considerations do not point to one right decision. A genetic counsellor, fertility counsellor, condition-specific organisation or other trusted support can help you explore what matters to you.
A Genetic Health Navigator can help you work out a practical next step, prepare questions and connect with relevant information and services. GAA does not recommend tests or interpret individual results.
