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. 
Preimplantation genetics and other reproductive options in Huntington disease.
Prenatal and Preimplantation Genetic Diagnosis of Huntington's Disease
TLDR
Only a relatively few at-risk parents opt for PND and PGD, and compared to PND, PGD is even more seldom opted for as a reproductive option.
Non‐disclosure preimplantation genetic diagnosis for Huntington's disease: practical and ethical dilemmas
TLDR
Prenatal diagnosis of Huntington's Disease (HD) is controversial, since half the fetuses carrying the affected grandparental allele may be normal, and aborting these fetuses is also controversial.
Genetic prenatal and preimplantation diagnosis of trinucleotide repeat disorders
  • N. Dean, A. Ao
  • Medicine
    Expert review of neurotherapeutics
  • 2002
TLDR
The history, present status and future of genetic antenatal diagnosis for the trinucleotide repeat disorders, including Huntington′s disease, Fragile X syndrome and myotonic dystrophy are examined.
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 Huntington's disease with exclusion testing
TLDR
The first PGD cycles for exclusion testing for Huntington's disease in five couples are described, three couples have had at least one PGD cycle so far and one pregnancy ensued and a healthy female baby was delivered.
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).
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References

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The current status of preimplantation diagnosis
UPTAKE OF PRESYMPTOMATIC PREDICTIVE TESTING FOR HUNTINGTON'S DISEASE
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.
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.
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