Key result
IVF with PGD successfully identified 6 F198S mutation-free embryos, leading to the transfer of two embryos and the birth of healthy twins who showed normal development at 27 months of age.
Why the study?
Does IVF with PGD prevent the transmission of genetic prion disease in at-risk families?
Case Report (n=1)
No
Does IVF with PGD prevent the transmission of genetic prion disease in at-risk families?
IVF with PGD is a viable option for preventing the transmission of genetic prion disease to offspring in at-risk families.
Answers are grounded in this paper and cite their sources.
May support IVF-PGD as a reproductive option in select prion families; leaves open generalizability and long-term safety.
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.
No takes yet. Share an insight, caveat, or question.
Uflacker et al. (2014) conducted a case report in Gerstmann-Sträussler-Scheinker syndrome (GSS) / F198S PRNP mutation (n=1). Preimplantation Genetic Diagnosis (PGD) with in vitro fertilization (IVF) was evaluated on Detection of mutation-free embryos and successful birth of healthy offspring. IVF with PGD successfully identified 6 F198S mutation-free embryos, leading to the transfer of two embryos and the birth of healthy twins who showed normal development at 27 months of age.
Synapse has enriched 10 related papers. Consider them for comparative context: