What diseases can PGT-M detect?

PGT-M can be designed for essentially any condition where the specific gene change is known and identifiable in your family. It is not a fixed list. Commonly tested in India and elsewhere: Thalassaemia and sickle cell disease Cystic fibrosis Spinal muscular atrophy Duchenne muscular dystrophy and haemophilia (X-linked) Huntington disease Fragile X syndrome Also possible: conditions caused by repeat expansions, where ESHRE specifies you should be told the threshold of repeat size below which embryos can still be transferred — an important detail for conditions like Huntington disease and fragile X. Mitochondrial conditions can be tested in some circumstances, though these are reported differently, as low-risk or high-risk rather than affected or unaffected. HLA typing can be combined with PGT-M where an existing affected child might benefit from a stem cell transplant from a sibling. ESHRE gives specific figures worth knowing before starting: 25% of embryos are genetically transferable with HLA typing alone, 18.8% when also excluding a recessive condition, and 12.5% when also excluding a dominant one. Those are low numbers, and the counselling should cover them upfront. What cannot be done: PGT-M for a condition where no gene change has been identified, or for conditions with complex causes such as autism, diabetes or most cancers other than specific inherited predispositions. The prerequisite is always a confirmed genetic diagnosis in the family first.