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

Alice Uflacker, P. Murali Doraiswamy, Svetlana Rechitsky, Tricia See, Michael Geschwind, Ilan Tur-Kaspa

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)484-486
Number of pages3
JournalJAMA Neurology
Volume71
Issue number4
DOIs
StatePublished - 1 Jan 2014
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

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