Non‐disclosing preimplantation genetic diagnosis for Huntington disease

Stern, Harry A.; Harton, G.; Sisson, Michael E.; Jones, Shirley L.; Fallon, Lee; Thorsell, Lilli P.; Getlinger, Michael E.; Black, Susan H.; Schulman, Joseph D.

doi:10.1002/pd.359

Cited by 42 publications

(21 citation statements)

References 13 publications

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“…The major drawback of PGD procedure is the low rate of pregnancy obtained. We considered the possibility of offering a nondisclosure test as reported previously, 8 but for ethical and practical reasons and in agreement with others, 7,24,25 we declined this possibility and opted for the exclusion test even if it required further work to set up the technique.…”

Section: Discussionmentioning

confidence: 99%

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New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications

2004

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Huntington's disease (HD) is a late-onset neurodegenerative disorder transmitted as an autosomal dominant trait. The causative mutation was characterised in 1993. For HD carriers willing to create a family, prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD) based on the mutation identification can be offered. For at-risk persons who do not want to undergo presymptomatic testing (PT), an exclusion test can be proposed. With such a test, only foetuses or embryos that inherit an allele from the unaffected grandparent are considered as unaffected. In cases of PND, if the foetus has one allele of the affected grandparent, termination of pregnancy is proposed. In cases of PGD, only not at-risk embryos are transferred. Since the beginning of our PGD activity, we have had 43 PGD referrals for HD, of which 24 were from patients who know their genetic status and 19 from patients who do not wish to perform PT. We have developed 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. We present here these different protocols and their clinical applications, as well as the characterisation and use of a new highly polymorphic intragenic marker. Between

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Section: Discussionmentioning

confidence: 99%

“…Only embryos without a CAG expansion are transferred. 8 This implies that the atrisk member of the couple has to face a new situation. Indeed, he/she goes from a situation where he/she does not know, but knows that no one knows to a situation where he/she does not know, but knows that someone knows.…”

Section: Introductionmentioning

confidence: 99%

New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications

2004

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“…We are aware of one centre that has applied non-disclosure. 5 Eleven PGD cycles have resulted in four ongoing pregnancies. Possible problems with accidental disclosure of carrier status or other problems were not mentioned.…”

Section: Discussionmentioning

confidence: 99%

“…The authors went on to propose that this strategy could be used to reduce or even eliminate HD from the population. In a response to this, Evers-Kiebooms et al 21 criticised the emphasis Schulman et al 5 placed on the adverse effects of predictive testing and stress that counselling similar to the counselling given prior to predictive testing should be offered to patients opting for PGD. We are aware of one centre that has applied non-disclosure.…”

Section: Discussionmentioning

confidence: 99%

“…3 It has been suggested 4 that this test might also be used for patients who do not wish to know their carrier status, in which case it would be termed non-disclosure, to differentiate it from exclusion testing. One centre has applied this test with apparently good results: 5 embryos are analysed before implantation without revealing to the patient any detail of the course of the IVF/ICSI cycle, after which only embryos without the expansion are transferred. No termination of pregnancy would have to be carried out, and the parent's carrier status will therefore not have to be revealed.…”

Section: Introductionmentioning

confidence: 99%

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Preimplantation genetic diagnosis for Huntington's disease with exclusion testing

Sermon¹,

Rijcke²,

Lissens³

et al. 2002

Eur J Hum Genet

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Couples' experiences of predictive testing and living with the risk or reality of Huntington disease: A qualitative study

Richards

2003

American J of Med Genetics Pt A

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A qualitative study, based on family systems theory, was undertaken in order to gain a better understanding of the impact of predictive testing and of living with the risk or reality of Huntington disease (HD), on couple relationships. Semi-structured interviews were conducted with 14 couples; in 9 couples the at-risk partner had undergone testing, and of these, 4 were already affected with HD. At-risk partners in the remaining five couples had not been tested. Interview transcripts were analyzed to obtain a range of themes, which reflect the salient experiences of these couples in relation to HD. Most couples reported that receiving a predictive test result had little or no adverse effect on their relationship. However for two couples who separated after the at-risk partner received a non-carrier result, emotional factors associated with years of living with the HD risk, rather than the result itself, were regarded as having caused irreparable damage to the relationship. For two couples who have remained together since the diagnosis of one partner, loyalty was identified as the main factor contributing to the continuance of the relationship. The separations of the other two couples in which one partner was diagnosed were attributed to emotional distancing, and to the obsessive behavior of the affected partner. The findings of this study highlight both the individuality and the complexity of psychological effects on the intimate relationships of couples who live with the risk or reality of HD, and provide important insights for professionals offering support to these couples.

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Non‐disclosing preimplantation genetic diagnosis for Huntington disease

Abstract: The option of non-disclosing preimplantation genetic diagnosis should be reviewed, along with other relevant medical options, when counselling at-risk Huntington disease families.

Cited by 42 publications

References 13 publications

New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications

New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications

Preimplantation genetic diagnosis for Huntington's disease with exclusion testing

Couples' experiences of predictive testing and living with the risk or reality of Huntington disease: A qualitative study

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