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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.
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: |
| Pontocerebellar hypoplasia (type 6, 4, 3, 2d, 2c, 2b, 2a, 1a) |
611523, 225753, 608027, 613811, 612390, 277470, 612389, 607596 |
Closed |
| Multiple pterygium syndrome; Lethal Type; LMPS |
253290 |
Closed |
| Mucopolysaccharidosis type I (MPS I) |
607014, 607015, 607016 |
Closed |
| Hereditary Multiple Exostoses Type II |
133701 |
Closed |
| Galactosialidosis |
256540 |
Closed |
| Spinocerebellar ataxia type 2 (SCA2) |
183090 |
Closed |
| Pontocerebellar hypoplasia type 1B (PCH1B) |
614678 |
Closed |
| Surfactant Metabolism Dysfunction, Pulmonary 1 (SMDP1) |
265120 |
Closed |
| Familial Hyper Trophic Cardiomyopathy-4 (CMH4) |
115197 |
Closed |
| Fried Syndrome |
300630 |
Closed |
| Gorlin Syndrome |
109400 |
Closed |
| Dominant Retinitis Pigmentosa |
180100 |
Closed |
| Alpha Thalassemia |
141800 |
Closed |
| Carnitine Acylcarnitine Translocase Deficiency (CACT) |
212138 |
Closed |
| Alagille Syndrome |
118450 |
Closed |
| Maple Syrup Urine Disease (MSUD) |
248600 |
Closed |
| Autosomal recessive dopa-responsive dystonia |
233910
|
Closed |
| Multiple Epiphyseal Dysplasia |
607078 |
Closed |
| X-linked thrombocytopenia |
313900 |
Closed |
| Familial dysautonomia (neuropathy, hereditary, sensory and autonomic, type III) |
223900 |
Closed |
| Omenn Syndrome |
603554 |
Closed |
| Nephrogenic Diabetes Insipidus |
304800 |
Closed |
| Conradi-Hunermann-Happle Syndrome |
302960 |
Closed |
| Autism Spectrum Disorder |
None |
Closed |
| Badet-Biedl syndrome (BBS) |
209900 |
Closed |
| Lebers Congenital Amaurosis |
204000/204100 |
Closed |
| Donohue syndrome (leprechaunism) |
246200 |
Closed |
| Walker Warburg Syndrome Muscular dystrophydystroglycanopathy type A, 1 |
236670 |
Closed |
| Norrie Disease |
310600 |
Closed |
| Rhesus Disease Haemolytic (disease of the newborn) |
No OMIM number provided
|
Closed |
| Hereditary Haemorrhagic Telangiectasia or Rendu-Osler-Weber Syndrome |
187300 |
Closed |
| Wolcott Rallison Syndrome 226980 |
226980 |
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: pgd@hfea.gov.uk
Page last updated: 07 August 2013
