Genetic conditions awaiting consideration by the HFEA

Preimplantation genetic diagnosis (PGD) is a technique that enables people with a specific inherited condition in their family to avoid passing it on to their children. It involves checking the genes of embryos created through IVF for this genetic condition.

 

If a clinic wishes to use Preimplantation genetic diagnosis (PGD) to test for a new genetic condition, then it must apply to the HFEA for permission. 

 

The following conditions are those which the HFEA is considering to allow clinics to use PGD to test for:

 

Genetic condition OMIM number* Date of consideration by Licence Committee
Acute intermittent porphyria (AIP) 176000

25 February

Osteogenesis imperfecta type III 259420 25 February
Niemann pick disease type A 257200 25 February
Ullrich muscular dystrophy 254090 25 February
SMARD1- spinal muscular atrophy and respiratory distress 604320 25 February
5 alpha reductase deficiency 264600 25 February
LCHAD ( long chain 3-hydroxyacyl-CoA dehydrogenase deficiency) 609016 25 February
Muscle eye brain disease 253280 25 February
Paragangliomas 4 (Pgl 4) 115310 25 February
Popliteal ptergyium syndrome 119500 25 February
Succinic semialdehyde dehydrogenase deficiency 271980 25 February
Acute recurrent autosomal recessive rhabdomyolysis and myoglobinuria 268200 25 March
Osteopetrosis, Autosomal recessive 5 259720 25 March
Acute recurrent autosomal recessive rhabdomyolysis and myoglobinuria 268200 25 March
Beta-thalassaemia (Thalassaemia major) 141900  tba
Central core myopathy 117000 tba
Cerebral caverous malformations 116860 tba
Hypophosphatemic rickets: X-linked dominant (Xlh) 307800 tba
Non-classical congenital adrenal hyperplasia (CAH) 201910 tba
Stuve-Wiedemann Syndrome 601559 tba
Branchio oto renal syndrome (BOR Syndrome) 113650 tba
Autosomal dominant polycystic kidney disease 173900 tba

 *what is an OMIM number?

Have your say on conditions awaiting consideration

If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.

Email: pgd@hfea.gov.uk

 

Page last updated: 07 December 2009

Have your say - conditions awaiting consideration

If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.

Email: pgd@hfea.gov.uk

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