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. 

You can sign up to our PGD update email alert service which will keep you up to date, on a monthly basis, with information on the latest conditions added to the authorised list and conditions that are awaiting approval about which you can provide comments.

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:
Muscular Dystrophy-Dystroglycanopathy type A (A1-A8; A10-A14) 236670, 613150, 253280, 253800, 613153, 613154, 614643, 614830, 615041, 615181, 615249, 615287, 615650 16/07/15
Glanzmann Thrombasthenia (GT)  273800 24/06/15
Myoclonic epilepsy associated with ragged-red fibres 545000 24/06/15
Autosomal dominant familial exudative vitreoretinopathy types 1, 5 and 4 133780, 613310 and 601813 24/06/15
TUBA1A - p.Arg123Cys (c.367C>T) mutation n/a 27/05/15
Leber congenital amaurosis types 3 - 17 604232, 604393, 604537, 613826, 613829, 613835, 608553, 611755, 613837, 610612, 612712, 613341, 613843, 614186, 615360 27/05/15
Trichorhinophalangeal syndrome type 1 190350 27/05/2015
Spinocerebellar ataxia 14 605361 27/05/2015
Joubert Syndrome 5 610188 27/05/2015
Epidermolysis bullosa, lethal acantholytic 609638 29/04/2015
Arthrogryposis renal dysfunction and cholestasis ARC type 1 and type 2 208085, 613404 29/04/2015
Pyruvate dehydrogenase E1-alpha deficiency 312170 29/04/2015
Haemoglobin SC disease 141900.0038 29/04/2015
Microcephaly with or without chorioretinopathy, lymphedema or mental retardation 152950 29/04/2015
Aniridia 106210 29/04/2015
SNCA-related Parkinson’s Disease with Lewy Body Dementia, to include Parkinson’s disease 4, Parkinson’s disease 1 and Lewy body dementia (excluding GBA locus dementia with the same OMIM) 605543, 168601, 127750 29/04/2015

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 your feedback to: pgd@hfea.gov.uk

You can also sign up to our PGD update email alert service which will keep you up to date, on a monthly basis, with information on the latest conditions added to the authorised list and conditions that are awaiting approval about which you can provide comments.

 

Page last updated: 26 May 2015