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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:
Mitochondrial Complex 1 Deficiency caused by NDUFS4 gene  - 30/05/2017
Cerebral Cavernous Malformations 3 (CCM3) 603285 30/05/2017
Atrial Septal Defect (ASD) 7 with or without motor conduction defects 108900 25/05/2017
Spinocerebellar Ataxia 20, SCAR20 (SNX14-related cerebellar hypoplasia) 616354 25/05/2017
Brooke-Spiegler Syndrome (BSS) 605041 25/05/2017
Paramyotonia Congenita (PMC) 168300 25/05/2017
Merosin Deficient Congenital Muscular Dystrophy type 1A 607855 25/05/2017
Multiple pterygium syndrome, Escobar variant, EVMPS 265000 24/05/2017
Combined oxidative phosphorylation deficiency; MRPS22 611719 26/04/2017
Shwachman Diamond Syndrome (SDS) 260400 26/04/2017
X-linked syndromic mental retardation (NONO) 300967 26/04/2017
Glomerulosclerosis (focal segment) with kidney failure 616002 26/04/2017
Myoclonus Dystonia 159900 18/04/2017
Neuropathy, distal hereditary motor, type IIA (HMN2A) 158590 (4249) Closed
Glycogen Storage Disease Type 4 232500 (4234) Closed
Parkinson’s disease type 8 607060 Closed
Langer's Mesomelic Dysplasia (LMD) 249700 Closed
Familial thoracic aortic aneurysm and dissection (TAAD) 611788 Closed
Mabry Syndrome (Hyperphosphatasia-mental retardation syndrome (HPMRS)) 239300 Closed
Isolated Microphthalmia 2 (MCOP2) 610092 Closed
RELN- associated Lissencephaly 257320 Closed
Cerebro-oculo-facial-skeletal syndrome type 3 616570 Closed
Seizures, cortical blindness, microcephaly syndrome (SCBMS) 616632 Closed
Leigh Syndrome; French Canadian type (LSFC) 220111 Closed
Early Infantile Epileptic Encephalopathy-28 616211 Closed
Familial Juvenile Hyperuricemic Nephropathy 1 (FJHN1) and Medullary Cystic Kidney Disease 2 (MCKD2) 603860 Closed
Dopamine Responsive Dystonia (DRD) 128230 Closed
Van der Woude syndrome 119300 Closed
VICI syndrome 242840 Closed
Duane-radial ray syndrome 607323 Closed
Friedreich Ataxia 1 229300 Closed
Peutz-Jeghers syndrome 175200 Closed
Aicardi Goutieres syndrome type 2 (AGS2) 610181 Closed
Antithrombin III Deficiency 613118 Closed
Autosomal Dominant Hypocalcaemia 615361 and 601198 Closed
Mitochondrial complex 1 deficiency 252010 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