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PGT-M conditions

The page below lists all PGT-M conditions currently authorised and awaiting consideration by the HFEA.

When publishing genetic conditions on the authorised list, we aim to be as consistent as possible with the OMIM database. However, many conditions may have several different names and we would recommend searching the list using the OMIM number for the condition as this is less likely to change throughout time.

If a condition does not appear on the list, it does not necessarily mean the condition has specifically not been authorised, it may mean that we have never before received an application from a UK centre to perform PGT-M for this condition and it has therefore never been considered by the HFEA.

Please note that we are always processing new applications to add genetic conditions to the list from UK centres licensed to perform PGT-M. This may mean that some authorised conditions may not be displayed. If you are unsure if a condition has been authorised or not, or would like any further information please contact the PGTM team at pgtm@hfea.gov.uk.

Click here for a downloadable list: approved condition list. Please note that the website page below is updated more regularly and is therefore more accurate than the downloadable list.

Condition name Status OMIM number Documents
Spastic Ataxia 5, Autosomal Recessive (SPAX5) approved 614487
Spastic Ataxia 8, Autosomal Recessive with Hypo-Myelinating Leukodystrophy (SPAX8) approved 617560
Spastic Ataxia, Charlevoix-Saguenay Type (SACS) approved 270550
Spastic paraplegia (due to publishing limitations, we can't provide a link to the relevant minutes - please contact HFEA.Licensing@HFEA.gov.uk if you would like to be sent a copy) approved
Spastic Paraplegia and Psychomotor Retardation with or without Seizures; SPPRS approved 616756
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) awaiting consideration 616657
Spherocytosis, Type 1 (SPH1) approved 182900
Spherocytosis, Type 2 (SPH2) approved 616649
Spherocytosis, Type 3 (SPH3) approved 270970
Spherocytosis, Type 4 (SPH4) approved 612653
Spinal and Bulbar Muscular Atrophy X-linked (Kennedy disease) (in affected male embryos) approved 313200
Spinal Muscular Atrophy and Respiratory Distress (SMARD1) approved 604320
Spinal Muscular Atrophy with Congenital Bone Fractures 1 (SMABF1) approved 616866
Spinal Muscular Atrophy with Congenital Bone Fractures 2 (SMABF2) approved 616867
Spinal Muscular Atrophy, Type I (SMA1) approved 253300
Spinal Muscular Atrophy, Type II (SMA2) approved 253550
Spinal Muscular Atrophy, Type III (SMA3) approved 253400
Spinocerebella Ataxia 21 (SCA21) approved 607454
Spinocerebellar Ataxia 1 (SCA1) approved 164400
Spinocerebellar ataxia 10 (SCA10) approved 603516