Preimplantation genetic diagnosis for myotonic dystrophy type 1 in the UK.
Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder caused by expansion of a trinucleotide repeat in a non-coding region of DMPK. Prenatal diagnosis (PND) is available; however, the decision to terminate affected pregnancies is difficult as the extent of disability is hard to predict from the size of the expansion. In preimplantation genetic diagnosis (PGD) genetic analysis is carried out before the establishment of pregnancy. This paper reviews the largest number of cycles of PGD for DM1 in the UK indicating that PGD is a practical option for affected couples.
Kakourou
Georgia
G
Institute for Women's Health, UCL Centre for Preimplantation Genetics, 86-96 Chenies Mews, London WC1E 6HX, UK.
Dhanjal
Seema
S
Mamas
Thalia
T
Gotts
Sarah
S
Doshi
Alpesh
A
Fordham
Karen
K
Serhal
Paul
P
Ranieri
Domenico M
DM
Delhanty
Joy D A
JD
Harper
Joyce C
JC
SenGupta
Sioban B
SB
D005260:Female; D005307:Fertilization in Vitro; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D016133:Polymerase Chain Reaction; D019836:Preimplantation Diagnosis; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D018911:Trinucleotide Repeats; D006113:United Kingdom
C585517:DMPK protein, human; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases