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:
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 08/04/2015
Aniridia 106210 08/04/2015
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 08/04/2015
Rigid spine muscular dystrophy type 1  602771 25/03/2015
Usher syndrome type 1 and type 2 276900, 276901 25/03/2015
Mucopolysaccharidosis type 4a 253000 19/02/2015
Spinal muscular atrophy type 2 and type 3 253550, 253400 19/02/2015
Ichthyosis with confetti 609165 19/02/2015
X-linked lissencephaly 300067 19/02/2015
Nijmegen breakage syndrome-like 613078 19/02/2015
Frontotemporal dementia with Parkinsonism, PGRN mutation 607485 09/01/2015
Otopalatodigital syndrome type 1, frontometaphyseal dysplasia, Melnick-Needles syndrome 311300, 305620, 309350 09/01/2015
Cartilage-hair hypoplasia spectrum 157660 09/01/2015

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: 18 February 2015