Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders

@article{Schulman1996PreimplantationGT,
  title={Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders},
  author={Joseph D. Schulman and Susan H. Black and Ahaw Handyside and Walter E. Nance},
  journal={Clinical Genetics},
  year={1996},
  volume={49}
}
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 may also be applicable to other extremely deleterious dominant traits. 
New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications
TLDR
12 multiplex fluorescent PCR protocols applied at the single-cell level for PGD, some of which target the CAG repeat while others use two different polymorphic microsatellites, as well as the characterisation and use of a new highly polymorphic intragenic marker.
Preimplantation genetic diagnosis for inherited neurological disorders
TLDR
It is argued 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.
Preimplantation diagnosis for Huntington's disease (HD): clinical application and analysis of the HD expansion in affected embryos
TLDR
A single‐cell PCR assay for the HD gene is developed in order to propose preimplantation genetic diagnosis (PGD) for the couples at risk of Huntington's disease and the behaviour of the disease‐causing expansion in pre‐im implantation embryos is discussed.
Non‐disclosing preimplantation genetic diagnosis for Huntington disease
TLDR
It is shown that, with a carefully designed and executed programme of non‐disclosing preimplantation genetic testing, one can successfully assist at‐risk couples to have their own biological children who are free from Huntington disease, without forcing parents to confront knowledge of their own genetic status.
Predictive and preimplantation genetic testing for Huntington's disease and other late onset dominant disorders: not in conflict but complementary
TLDR
It is agreed that PGT may have benefits for some couples in families with HD, however, the psychosocial reality of predictive testing of asymptomatic individuals at risk for HD and of PGT is much more complex than suggested by Sdhulman et al. (1996).
Low utilization of prenatal and pre‐implantation genetic diagnosis in Huntington disease – risk discounting in preventive genetics
TLDR
The decision‐making process regarding genetic testing in families with HD is examined and the possible reasons for the low uptake among this group are discussed.
Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres
TLDR
It is concluded that PGD is a valuable and safe reproductive option for HD carriers and couples at risk of transmitting HD.
Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections.
TLDR
Recommendations and suggestions for good clinical practice in the reproductive care for HD families are formulated and reflections on both PD and PGD are brought forward.
Diagnosis of Huntington disease.
TLDR
Conscientious laboratory work, knowledgeable interpretation of genetic test results, and the availability of pre- and posttest counseling are essential components of HD diagnosis.
Years of Prenatal Diagnosis for Huntington Disease : Still an Important Option despite the Increasing Use of Preimplantation Genetic Diagnosis
Raul E. Piña-Aguilar, Sheila Simpson, David Craufurd, Daniela Rae, Abdulrahman Ahlshatti, Angus Clarke, Huw Dorkins, Karen Doye, Nayana Lahiri, Alison Lashwood, Collen Lynch, Claire Miller, Sally
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References

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The current status of preimplantation diagnosis
UPTAKE OF PRESYMPTOMATIC PREDICTIVE TESTING FOR HUNTINGTON'S DISEASE
Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis.
TLDR
It is suggested that allele dropout (ADO) may be caused by a combination of inefficient denaturation and degradation of one of the genomic alleles in the first cycles of PCR for autosomal recessive conditions in which both parents are carrying the same mutation.
Reluctance to undergo predictive testing: the case of Huntington disease.
TLDR
The purpose of this study was to explore the reasons why those at risk for HD choose not to be tested in a situation where testing is available and most of the test-associated costs are covered by state funding.
The current status of preirnplantation genetic diagnosis
  • Cum Obstet Gynecol 1994:
  • 1994
Preimplantation genetic testing for X-linked disorders and cystic fibrosis
  • 7th International Conference on Early Prenatal Diagnosis, Jerusalem. May,
  • 1994