JAMA Neurology Releases for February 03, 2014 > Print
Case Report on Genetic Diagnosis of Fatal Disorder in Embryos Before
Pregnancy
EMBARGOED FOR RELEASE: 3 P.M. (CT), MONDAY, February 3, 2014
Media Advisory: To contact corresponding author Ilan Tur-Kaspa, M.D., call
312-493-3068 or email iturkaspa@gmail.com or DrTK@infertilityIHR.com and for
corresponding author Murali Doraiswamy, M.B.B.S., F. R.C.P., call Rachel
Harrison at 919-419-5069 or email rachel.harrison@duke.edu.
JAMA Neurology Study Highlights
Genetic testing of embryos for a fatal inherited neurodegenerative disorder
allowed a woman to selectively implant two mutation-free embryos and conceive
healthy twins, what researchers call the first case of in vitro fertilization
(IVF) with preimplantation genetic diagnosis (PGD) to prevent genetic prion
disease in children, according to a case report by Alice Uflacker, M.D., of Duke
University, Durham, N.C., and colleagues.
The 27-year-old woman is a carrier of the F198S mutation for
Gerstmann-Sträussler-Sheinker syndrome (GSS), a fatal neurodegenerative disorder
linked to abnormal prion protein folding. There is no known cure and the illness
is fatal, according to the case background.
During IVF treatment, 12 of the 14 oocytes (egg cells) retrieved from the
woman were fertilized and six mutation-free embryos were identified. The patient
opted to have two embryos transferred and three remaining viable embryos frozen
through cryopreservation.
The two embryos successfully implanted and the woman delivered twins by
Cesarean section at 33 weeks and five days of gestation. By age 27 months, the
twins had reached communication, social and emotional developmental milestones
on schedule.
“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,” the authors
conclude.
(JAMA Neurol. Published online February 3, 2014.
doi:10.1001/.jamaneurol.2013.5884. Available pre-embargo to the media at http://media.jamanetwork.com.)
Editor’s Note: Authors made conflict of interest and funding disclosures.
Please see the articles for additional information, including other authors,
author contributions and affiliations, financial disclosures, funding and
support, etc.
# # #
For more information, contact JAMA Network Media Relations at 312-464-JAMA
(5262) or email mediarelations@jamanetwork.org.
Thursday, January 30, 2014
Evidence in Sheep for Pre-Natal Transmission of Scrapie to Lambs from
Infected Mothers
Sunday, January 19, 2014
*** National Prion Disease Pathology Surveillance Center Cases Examined1 as
of January 8, 2014 ***
Monday, February 03, 2014
CREUTZFELDT-JAKOB DISEASE T.S.E. PRION U.K. UPDATE As at 3rd February 2014
TSS
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