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Uflacker A.,Duke University | Doraiswamy P.M.,Duke University | Rechitsky S.,Reproductive Genetics Institute | See T.,University of California at San Francisco | And 5 more authors.
JAMA Neurology | Year: 2014

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. Copyright 2014 American Medical Association. All rights reserved.

Tur-Kaspa I.,Institute for Human Reproduction | Tur-Kaspa I.,University of Chicago | Jeelani R.,Wayne State University | Doraiswamy P.M.,Duke Institute for Brain science
Nature Reviews Neurology | Year: 2014

Preimplantation genetic diagnosis (PGD) is an option for couples at risk of having offspring with an inherited debilitating or fatal neurological disorder who wish to conceive a healthy child. PGD has been carried out for conditions with various modes of inheritance, including spinal muscular atrophy, Huntington disease, fragile X syndrome, and chromosomal or mitochondrial disorders, and for susceptibility genes for cancers with nervous system involvement. Most couples at risk of transmitting a genetic mutation would opt for PGD over prenatal testing and possible termination of a pregnancy. The aim of this Perspectives article is to assist neurologists in counselling and treating patients who wish to explore the option of PGD to enable conception of an unaffected child. PGD can be accomplished for most disorders in which the genetic basis is known, and we argue that it is time for clinicians and neurological societies to consider the evidence and to formulate guidelines for the responsible integration of PGD into modern preventative neurology. © 2014 Macmillan Publishers Limited.

Virgili G.,University of Rome Tor Vergata | Bove P.,University of Rome Tor Vergata | Tariciotti P.,University of Rome Tor Vergata | Antinori M.,Institute for Human Reproduction | And 3 more authors.
Archivio Italiano di Urologia e Andrologia | Year: 2010

Objective: To verify the correlation between echogenicity of testicular parenchyma and male fertility parameters. Materials and Methods: The study included 101 patients who referred to the urologists for couple infertility. Male patient underwent anamnestic assessment, physical examination, screening for hormonal serum levels (FSH, LH, testosterone, prolactine), sperm analysis, sperm culture and testicular ultrasound with registration of testicular volume and mean testicular echogenicity. The data has been recorded in a database and analyzed for possible statistical correlations. Results: The variable "mean testicular echogenicity" was compared with every response variable. Non-statistical significance was found between mean testicular echogenicity and mean serum levels of testosterone, prolactin, and patient age or with the single semen sample parameters. Conclusions: Mean testicular echogenicity does not correlate with any of the male fertility parameters examined. Higher numbers are needed to define the possible role of parenchymal echogenicity to predict infertile patients.

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