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:
Aicardi Goutieres syndrome type 2 (AGS2) 610181 06/09/2016
SOPH Syndrome 614800 02/09/2016
Familial Myelodysplastic Syndrome (FMDS) 614286 02/09/2016
FAS-Associated Death Domain Deficiency (FADD) 613759 27/07/2016
Kallmann syndrome   308700 25/07/2016
Genetic condition awaiting consideration - Joubert Syndrome, type 1 2 3 4 7 8 9 13 14 15 16 17 18 20 21 22 23 24 25 26

213300, 608091
608629, 609583
611560, 612291
612285, 614173
614424, 614464
614465, 614615
614815, 614970
615636, 615665
616490, 616654
616781, 616784

Closed
Reducing Body Myopathy (RBM) 300717 Closed
Lubs X-linked mental retardation syndrome (MRXSL) / MECP2 Duplication syndrome

300260

Closed
PGD Short-Rib Thoracic Dysplasia (SRTD)

208500, 611263,
613091, 613819,
614376, 263520,
614091, 615503,
266920, 615630,
615633, 269860,
616300, 616546

Closed
Danon disease 300257 Closed
Facioscapulohumeral Muscular Dystrophy Type 2 (FSHD2) 158901 Closed
Antithrombin III Deficiency 613118 Closed
Congenital Steroid Resistant Nephrotic Syndrome

600995

Closed
Atrioventricular Septal Defect 4 (AVSD4) (GATA4 gene) 614430 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: 26 July 2016