PGD conditions awaiting consideration

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 number1 Submit feedback to the HFEA by:
Spinocerebellar ataxia type 2 (SCA2) 183090 05/06/2013
Pontocerebellar hypoplasia type 1B (PCH1B) 614678 05/06/2013
Surfactant Metabolism Dysfunction, Pulmonary 1 (SMDP1) 265120 21/05/2013
Familial Hyper Trophic Cardiomyopathy-4 (CMH4) 115197 16/05/2013
Fried Syndrome 300630 Closed
Gorlin Syndrome 109400 Closed
Dominant Retinitis Pigmentosa 180100 Closed
Alpha Thalassemia 141800 Closed
Carnitine Acylcarnitine Translocase Deficiency (CACT) 212138 Closed
Alagille Syndrome 118450 Closed
Maple Syrup Urine Disease (MSUD) 248600 Closed
Autosomal recessive dopa-responsive dystonia 

233910

 Closed
Multiple Epiphyseal Dysplasia 607078 Closed
X-linked thrombocytopenia 313900 Closed
Familial dysautonomia (neuropathy, hereditary, sensory and autonomic, type III) 223900 Closed
Omenn Syndrome 603554 Closed
Nephrogenic Diabetes Insipidus 304800 Closed
Conradi-Hunermann-Happle Syndrome 302960 Closed
Autism Spectrum Disorder None Closed
Badet-Biedl syndrome (BBS) 209900 Closed
Lebers Congenital Amaurosis 204000/204100 Closed
Donohue syndrome (leprechaunism) 246200 Closed
Walker Warburg Syndrome Muscular dystrophydystroglycanopathy type A, 1 236670 Closed
Norrie Disease 310600 Closed
Rhesus Disease Haemolytic (disease of the newborn)

No OMIM number provided

 Closed
Hereditary Haemorrhagic Telangiectasia or Rendu-Osler-Weber Syndrome 187300 Closed
Wolcott Rallison Syndrome 226980 226980 Closed

1- Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD),. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim

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 May 2013