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:

Partial androgen insensitivity syndrome (PAIS)

312300

15/10/2015

Abetalipoproteinemia (ABL)

200100

15/10/2015

Galactosaemia 

230400

15/10/2015

Dilated Cardiomyopathy 1A (CMD1A) 115200 10/09/2015
Dyskeratosis Congenita (DKCA1) 127550 10/09/2015
Bloom Syndrome 210900 10/09/2015
Congenital Contractural Arachnodactyly (Beals Syndrome) 121050 10/09/2015
Mitochondrial Complex 1 Deficiency 611126 10/09/15
Distal Renal Tubular Acidosis with progressive nerve deafness 602722, 267300 10/09/15
Achondrogenesis Type 1A, TRIP 11 exon 11  

200600

closed

Bartter Syndrome, types 1, 2, 3, 4a, 4b

601678, 241200, 607364, 602522, 613090

closed

Dilated Cardiomyopathy (DCM)

611878

closed

Spondyloepimetaphyseal dysplasia, Strudwick type 184250 closed
Lisscencephaly 3 611603 closed
Christianson syndrome 300243 closed
Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES 1 & 2) 110100 closed
Muscular Dystrophy-Dystroglycanopathy type A (A1-A8; A10-A14) 236670, 613150, 253280, 253800, 613153, 613154, 614643, 614830, 615041, 615181, 615249, 615287, 615350 closed
TUBA1A - p.Arg123Cys (c.367C>T) mutation n/a closed - please note, this application will now be considered under Lisscencephaly 3

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: 19 August 2015