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:
Achondrogenesis Type 1A, TRIP 11 exon 11  

200600

20/08/15

 Bartter Syndrome, types 1, 2, 3, 4a, 4b

601678, 241200, 607364, 602522, 613090

20/08/15

Dilated Cardiomyopathy (DCM)

611878

20/08/15

Lisscencephaly 3 611603 29/07/15
Christianson syndrome 300243 16/07/15
Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES 1 & 2) 110100 16/07/15
Muscular Dystrophy-Dystroglycanopathy type A (A1-A8; A10-A14) 236670, 613150, 253280, 253800, 613153, 613154, 614643, 614830, 615041, 615181, 615249, 615287, 615350 16/07/15
TUBA1A - p.Arg123Cys (c.367C>T) mutation n/a closed - please note, this application will now be considered under Lisscencephaly 3
Glanzmann Thrombasthenia (GT)  273800 closed
Myoclonic epilepsy associated with ragged-red fibres 545000 closed
Autosomal dominant familial exudative vitreoretinopathy types 1, 5 and 4 133780, 613310 and 601813 closed
Leber congenital amaurosis types 3 - 17 604232, 604393, 604537, 613826, 613829, 613835, 608553, 611755, 613837, 610612, 612712, 613341, 613843, 614186, 615360 closed
Trichorhinophalangeal syndrome type 1 190350 closed
Spinocerebellar ataxia 14 605361 closed
Joubert Syndrome 5 610188 closed
Epidermolysis bullosa, lethal acantholytic 609638 closed
Arthrogryposis renal dysfunction and cholestasis ARC type 1 and type 2 208085, 613404 closed
Pyruvate dehydrogenase E1-alpha deficiency 312170 closed
Haemoglobin SC disease 141900.0038 closed
Microcephaly with or without chorioretinopathy, lymphedema or mental retardation 152950 closed
Aniridia 106210 closed
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 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 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 June 2015