What does PGT-M treat?

PGT-M means preimplantation genetic testing for monogenic disease. It looks for a particular genetic change linked to a condition in a family, rather than checking for every possible health problem. The test may be considered when one or both genetic parents have a condition, carry a change that can cause one, or have a known family history.

Examples can include some inherited blood conditions, such as thalassaemia, and other single-gene disorders. A genetic counsellor first confirms the family change and helps create a test suited to it. PGT-M does not treat an existing pregnancy or cure a parent’s genetic condition.

Start with genetic counselling and share any previous genetic test reports, family diagnoses, or records of recurrent miscarriage. Genetic carrier screening may help clarify inherited risk when the relevant change is not yet known. The laboratory may need samples from family members before testing can be prepared.

PGT-M is used alongside in-vitro fertilisation. Embryos are created, tested for the specified condition, and then the fertility team discusses which embryos may be suitable for transfer. Testing can reduce the chance of transferring an embryo with the targeted condition, but it does not assess every possible condition.

Arrange specialist advice before starting fertility treatment if you or your partner has a known single-gene condition, a confirmed carrier result, or a close relative with an inherited disorder. Earlier planning allows time to confirm the genetic change and develop the laboratory test. Seek prompt medical care for heavy bleeding, severe pelvic pain, fainting, or breathing difficulty during any fertility treatment.

Ask which genetic change should be tested, whether both partners need testing, what samples the laboratory requires, and how results will guide embryo selection. You can also ask what PGT-M cannot detect and what other prenatal testing may be offered.