Non‐disclosing preimplantation genetic diagnosis for Huntington disease

@article{Stern2002NondisclosingPG,
  title={Non‐disclosing preimplantation genetic diagnosis for Huntington disease},
  author={H J Stern and Gary L. Harton and Michael E. Sisson and Shirley L. Jones and Lee A. Fallon and Lilli P. Thorsell and Michael E Getlinger and Susan H. Black and Joseph D. Schulman},
  journal={Prenatal Diagnosis},
  year={2002},
  volume={22}
}
Individuals at risk for Huntington disease face difficult decisions regarding their reproductive options. Most do not wish to pass on the gene for Huntington disease to their children, but may not be prepared themselves to undergo presymptomatic testing and learn their genetic status. For these reasons, many at‐risk individuals with a family history of HD would choose a method of genetic diagnosis that would assure them that they can have children unaffected with HD without revealing their own… Expand
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TLDR
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The practical value of PGD is extended, with its utility being no longer limited to prevention of single gene disorders, by expanding it to treatment of siblings requiring stem cell transplantation. Expand
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Current reproductive options, however, remain restricted to the prevention of transmitting an at-risk gene or genes, but do not include treatment or cure, and it is anticipated that this state of "halfway technology" will continue for years to come. Expand
Diagnosis of Huntington disease.
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Conscientious laboratory work, knowledgeable interpretation of genetic test results, and the availability of pre- and posttest counseling are essential components of HD diagnosis. Expand
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References

SHOWING 1-10 OF 20 REFERENCES
Preimplantation genetic diagnosis for spinal muscular atrophy type I
TLDR
PGT is possible for the deletions in the survival motor neuron (SMN) gene that have been identified in 98% of SMA type I cases and provides a means for couples at risk for spinal muscular atrophy type I to reduce their chance of initiating an affected pregnancy. Expand
Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders
Preimplantation genetic testing (PGT) on embryos from couples at risk for Huntington disease can achieve disease prevention in offspring without disclosure of parental genotype. This strategy mayExpand
Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification
TLDR
This paper sets out to review current protocols for the diagnosis of single gene defects in human preimplantation embryos, which depend on DNA amplification using PCR, subject to a vareity of pitfalls. Expand
Preimplantation genetic testing for Marfan syndrome.
TLDR
The world's first use of preimplantation genetic testing (PGT) to achieve a clinical pregnancy and live birth of a baby free of a Marfan mutation is reported. Expand
FIRST-TRIMESTER PRENATAL DIAGNOSIS FOR HUNTINGTON'S DISEASE WITH DNA PROBES
TLDR
Polymorphic DNA probes linked to the locus for Huntington disease were used for prenatal diagnosis of a 10-week fetus and the fetus proved to have a 48% risk of having inherited the HD mutation, similar to that for the at-risk parent. Expand
Huntington's Chorea in South Wales A genetic and epidemiological study
TLDR
A study of Huntington's Chorea in South Wales has shown a prevalence of 7.61 per 100,000 in the counties of Gwent and Glamorgan, with a total population of 1.7 million, and analysis of migration patterns suggests that around 20 % of cases in each generation arise from outsideGlamorgan and Gwent. Expand
Reliable gender screening for human preimplantation embryos, using multiple DNA target-sequences.
Dependable methods were developed for preimplantation sexing of human IVF embryos, for use in clinical settings where prospective parents are at high risk for transmission of X-linked diseases. UsingExpand
Huntington's disease
TLDR
Your contributions to the investigation of this tragic disorder are presented and a review of current ideas about the disease is reviewed. Expand
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
TLDR
The Huntington's disease mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype. Expand
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum.
TLDR
The CAG triplet repeat region of the Huntington's disease gene was amplified in 923 single sperm from three affected and two normal individuals and an excellent fit was found when the model specified that a random number of repeats are added during the progression of the polymerase through the repeated region. Expand
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