Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene.

Journal Article (Journal Article;Review)

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.

Full Text

Duke Authors

Cited Authors

  • Uflacker, A; Doraiswamy, PM; Rechitsky, S; See, T; Geschwind, M; Tur-Kaspa, I

Published Date

  • April 2014

Published In

Volume / Issue

  • 71 / 4

Start / End Page

  • 484 - 486

PubMed ID

  • 24493558

Pubmed Central ID

  • PMC4349573

Electronic International Standard Serial Number (EISSN)

  • 2168-6157

Digital Object Identifier (DOI)

  • 10.1001/jamaneurol.2013.5884


  • eng

Conference Location

  • United States