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IVF and Genetic Testing Used to Avoid Prion Disease

Embryos selected without mutation in a woman with a family history of the disease

TUESDAY, Feb. 4, 2014 (HealthDay News) -- In vitro fertilization (IVF) and genetic testing have been used to allow a woman with a family history of a prion disease to have healthy twins lacking the mutation, according to a case report published online Feb. 3 in JAMA Neurology.

Alice Uflacker, M.D., from Duke University in Durham, N.C., and colleagues performed IVF and preimplantation genetic diagnosis in a 27-year-old asymptomatic woman with a family history of Gerstmann-Straussler-Sheinker syndrome to select embryos free of the F198S mutation in the prion protein gene linked to the syndrome.

The researchers identified six embryos free of the mutation and transferred two to the woman's uterus. The woman delivered healthy twins by cesarean at 33 weeks 5 days of gestation. The twins were developing normally at 27 months of age.

"IVF with preimplantation genetic diagnosis is a viable option for couples who wish to avoid passing the disease to their offspring," Uflacker and colleagues conclude.

One author disclosed financial ties to the pharmaceutical industry.

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