Preimplantation Genetic Testing for Monogenic disorders (PGT-M) is a distinct tool from PGT-A, designed for a specific situation: a known, identified genetic condition running in a family.
How PGT-M differs from PGT-A
PGT-A screens broadly for chromosome count abnormalities across any patient. PGT-M tests specifically for a single, previously identified genetic mutation known to run in the family — it requires knowing the exact mutation in advance, which typically means genetic counseling and testing of the intended parents before an IVF cycle even begins.
Who this applies to
Families with a known history of a specific inherited condition — where a parent is a known carrier of a mutation causing a serious genetic disease — are the primary candidates for PGT-M. A genetic counselor typically confirms the specific mutation and designs a testing protocol targeted to it before treatment begins.
The process
- Pre-cycle genetic counseling and mutation confirmation, often requiring blood work from both intended parents ahead of treatment
- A custom test is developed for the specific mutation identified
- Standard IVF stimulation and retrieval proceeds
- Embryo biopsy at the blastocyst stage, tested against the custom-developed panel
- Only unaffected embryos are considered for transfer
Because PGT-M requires a custom test built around a specific known mutation, it needs meaningfully more lead time than PGT-A — genetic counseling and test development should begin well before you're planning travel dates.
Planning ahead
If PGT-M applies to your situation, start the genetic counseling and mutation-confirmation process as early as possible — ideally months, not weeks, before your target treatment window, since custom test development is the longest lead-time step in the whole process.
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