Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene.
OBJECTIVE
To describe the first case of preimplantation genetic diagnosis (PGD) and in vitro fertilization (IVF) performed for the prevention of genetic prion disease in the children of a 27-year-old asymptomatic woman with a family history of Gerstmann-Sträussler-Sheinker syndrome (GSS).


METHODS
PGD and fertilization cycles resulted in detection of 6 F198S mutation-free embryos. Of these, 2 were selected for embryo transfer to the patient's uterus, yielding a clinical twin pregnancy and birth of healthy but slightly premature offspring with normal development at age 27 months.


CONCLUSIONS
IVF with PGD is a viable option for couples who wish to avoid passing the disease to their offspring. Neurologists should be aware of PGD to be able to better consult at-risk families on their reproductive choices.
Department of Psychiatry and the Duke Institute for Brain Sciences, Duke University, Durham, North Carolina.
Alice
A
Uflacker
Department of Psychiatry and the Duke Institute for Brain Sciences, Duke University, Durham, North Carolina.
P Murali
PM
Doraiswamy
Reproductive Genetics Institute, Chicago, Illinois.
Svetlana
S
Rechitsky
Department of Neurology, Memory and Aging Center, University of California, San Francisco4InformedDNA, Informed Medical Decisions Inc, St Petersburg, Florida.
Tricia
T
See
Department of Neurology, Memory and Aging Center, University of California, San Francisco.
Michael
M
Geschwind
Reproductive Genetics Institute, Chicago, Illinois5Department of Obstetrics and Gynecology, The University of Chicago6Institute for Human Reproduction, Chicago, Illinois.
Ilan
I
Tur-Kaspa
D000328:Adult; D004200:Diseases in Twins / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D017096:Prion Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000517:prevention & control; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D012306:Risk
C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions