Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene.
IMPORTANCE: 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). OBSERVATIONS: 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. CONCLUSION AND RELEVANCE: 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.
Duke Scholars
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- Risk
- Prions
- Prion Proteins
- Prion Diseases
- Preimplantation Diagnosis
- Pregnancy
- Mutation
- Infant, Newborn
- Humans
- Genetic Testing
Citation
Published In
DOI
EISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Risk
- Prions
- Prion Proteins
- Prion Diseases
- Preimplantation Diagnosis
- Pregnancy
- Mutation
- Infant, Newborn
- Humans
- Genetic Testing