Skip to main content

PGT-M conditions

This table shows all PGT-M conditions currently approved and awaiting consideration by the HFEA.

Please note that we are updating this database, and some approved conditions may not be displayed. If you are unsure if a condition has been approved or not, please contact pgtm@hfea.gov.uk.

Condition name Status OMIM number Documents
Primary Microcephaly 7 (MCPH7) approved 612703
Primary Microcephaly 8 (MCPH8) approved 614673
Primary Microcephaly 9 (MCPH9) approved 614852
Prion disease with protracted course approved 606688
Progressive External Opthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3 (PEOA3) approved 609286
Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1) approved 211600
Prolidase Deficiency approved 170100
Propionic Acidemia approved 606054
Pseudoachondroplasia approved 177170
Pseudohypoparathyroidism (PHP1a) approved 103580
Pseudo-TORCH syndrome-type 1 approved 251290
Pseudo-TORCH syndrome-type 2 approved 617397
Pseudovaginal Perineoscrotal Hypospadias due to 5-Alpha-Reductase Deficiency (insofar as that condition affects males, with simultaneous sex determination) approved 264600
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne Syndrome (PAPA) approved 604416
Pyrodoxine-dependent seizures (EPD) approved 266100
Pyruvate dehydrogenase E1-alpha deficiency X-linked approved 312170
Pyruvate Dehydrogenase E1-beta Deficiency approved 614111
Pyruvate Dehydrogenase, Alpha-1 (PDHA1) approved 312170
Radioulnar synostosis with amegakaryocytic thrombocytopenia type 1 (RUSAT1) approved 605432
Radioulnar synostosis with amegakaryocytic thrombocytopenia type 2 (RUSAT2) approved 616738