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:
Facioscapulohumeral Muscular Dystrophy Type 2 (FSHD2) 158901 07/06/2016
Antithrombin III Deficiency 613118 07/06/2016
Congenital Steroid Resistant Nephrotic Syndrome

600995

03/06/2016
Dilated Cardiomyopathy and Left Ventricular Noncompaction 5 613426 30/05/2016
Split hand/foot malformation 3 (SHFM3) 246560 02/05/2016
Progressive External Opthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3 (PEOA3) 609286 02/05/2016
X-linked Ocular Albinism 300500 Closed
Loeys-Dietz syndrome type I 609192 Closed
Atrioventricular Septal Defect 4 (AVSD4) (GATA4 gene) 614430 Closed
Dyskeratosis congenita due to TERT mutation (DKCA2 and DKCB4) 613989 Closed
Oculocutaneous albinism (OCA) type 2 203200 Closed
Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (FTDALS) 105550 Closed
Axenfeld Rieger syndrome, types 1 and 3 180500, 602482 Closed
Beckwith-Wiedemann Syndrome 013650 Closed
Gerstmann-Straussler-Scheinker Syndrome 137440 Closed
Hirschsprung disease 142623 Closed
Autosomal Dominant Retinitis Pigmentosa type 4 613731 Closed
Cockayne Syndrome 133540, 216400 Closed
Myotonic dystrophy type 2 602668 Closed
Nemaline myopathy type 2 256030 Closed
Autosomal Dominant Hypocalcaemia 615361 and 601198 Closed
Mitochondrial complex 1 deficiency 252010 Closed
LADD syndrome 149730 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: 24 February 2016