Portfolio
Reproductive genetics
Carrier screening and preimplantation genetic testing services.
Where it is used
- Preimplantation testing for aneuploidy
- Preimplantation testing for a monogenic disease known in the family
- Preimplantation testing where one parent carries a structural chromosomal rearrangement
- Carrier screening before treatment
Product types
Preimplantation genetic testing for aneuploidy (PGT-A)
PGT-A checks the number of chromosomes in an embryo before transfer, looking for aneuploidy, an abnormal chromosome count. It is particularly relevant to advanced maternal age, recurrent implantation failure or recurrent pregnancy loss; it is not recommended as a routine step for every in vitro fertilisation patient. The decision to test is made by the reproductive endocrinologist together with a genetic counsellor, the biopsy is performed by the embryologist in the embryology laboratory, and the molecular analysis is carried out by an external genetics laboratory.
Preimplantation genetic testing for monogenic disease (PGT-M)
PGT-M tests for a specific mutation already identified in the family, where one or both parents carry a single-gene condition with a known risk of inheritance. Each test is custom-built to that particular familial mutation, so it requires the parents' genetic identification before the treatment cycle begins. It follows the same division of work as PGT-A: indication and counselling from the reproductive endocrinologist and genetic counsellor, biopsy by the embryologist, and analysis by the genetics laboratory.
Preimplantation genetic testing for structural rearrangements (PGT-SR)
PGT-SR detects structural chromosomal rearrangements in the embryo, where one parent carries a balanced translocation or another structural rearrangement. The carrier parent usually shows no clinical signs, but embryos can inherit an unbalanced chromosome content, which raises the risk of implantation failure or pregnancy loss.
Carrier screening
Carrier screening checks the couple before treatment begins for carrier status of recessive conditions, where a person can carry a mutation without showing the condition themselves. When both members of a couple are found to carry the same condition, the result informs further decisions, including the possibility of PGT-M in a future cycle.
Tests available
This is a laboratory testing service, not the supply of a product. Material taken by biopsy in the embryology laboratory is sent to the testing laboratory and the result is returned to the centre that requested it.
| Category | Used for |
|---|---|
| Preimplantation testing for aneuploidy | Counting of chromosomes in the embryo before transfer |
| Preimplantation testing for monogenic disease | Search for a mutation known in the family |
| Preimplantation testing for structural rearrangements | Assessment where one parent carries a translocation or inversion |
| Carrier screening | Assessment of the couple before treatment begins |
Handling of material
Sending biological material abroad requires defined documentation and transport conditions. These are arranged with the requesting centre before the procedure starts.