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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.

Download full approved condition list.

Condition name Status OMIM number Documents
Bartter Syndrome, Type 5, Antenatal, Transient; BARTS5 awaiting approval 300971
Beare Stevenson syndrome approved 123790
Beckwith-Wiedemann Syndrome caused by a mutation in the CDKN1C gene or inheritance of a chromosome translocation, deletion or duplication affecting the chromosome 11 Beckwith Wiedemann syndrome region approved
Benign Chronic Pemphigus (BCPM) approved 169600
Beta Thalassaemia* approved 141900
Bethlem Myopathy 1 (BTHLM1) approved 158810
Bilateral Frontoparietal Polymicrogyria (BFPP) approved 606854
Birt-Hogg-Dubé Syndrome approved 135150
Blepharophimosis, Ptosis & Epicanthus Inversus Syndrome Types 1 & 2 (BPES 1 & 2) approved 110100
Bloom Syndrome approved 210900
Borjeson-Forssman-Lehmann Syndrome; BFLS approved 301900
Branchio-oculo-facial Syndrome (BOFS) approved 113620
Branchio-Oto-Renal Syndrome 1 (BOR1) approved 113650
BRCA 1 (increased susceptibility to breast cancer) approved 113705
Breast Ovarian Cancer Familial Susceptibility (BRCA2) approved 612555, 600185
Brooke-Spiegler Syndrome (BSS) approved 605041
Brugada Syndrome 1 (Sudden Unexplained Nocturnal Death Syndrome (SUNDS)) approved 601144
Calpainopathy approved 253600
Campomelic Dysplasia approved 114290
Canavan Disease approved 271900