Planning pregnancy and inherited conditions

If you are planning pregnancy and you, your partner or family have an inherited condition, genetic counselling before pregnancy can clarify individual risks and options. Carrier screening, prenatal screening, diagnostic testing and PGT answer different questions, and no test guarantees a child without a condition.

• A known genetic diagnosis or carrier result in either prospective genetic parent is a clear reason for counselling.
• Several relatives with the same rare disease, intellectual disability, muscle disease, early heart failure or cancer at a young age may indicate an inherited pattern.
• Collect medical letters, test results, condition names and the ages when relatives developed symptoms; family accounts alone may be inaccurate.
• Do not start commercial testing before clarifying the question you want answered and how results will be clinically confirmed and supported.
• Ask for referral before pregnancy for a known genetic condition, carrier status, chromosomal abnormality or significant family history.
• For urgent GP care outside office hours, call HAP 9252. Call Ambulance 912 only for an immediate threat to life.