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- Publisher
- American Medical Association
- Copyright
- Copyright 2014 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
- ISSN
- 2168-6149
- eISSN
- 2168-6157
- DOI
- 10.1001/jamaneurol.2013.5884
- pmid
- 24493558
- Publisher site
- See Article on Publisher Site
Abstract
ImportanceTo 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). ObservationsPGD 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. Conclusion and RelevanceIVF 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.
Journal
JAMA Neurology – American Medical Association
Published: Apr 1, 2014