Experience in prenatal testing for Huntington's disease in The Netherlands: procedures, results and guidelines (1987-1997)

Maat‐Kievit, Anneke; Vlis, Maria Vegter-van der; Zoeteweij, Moniek; Losekoot, Monique; Haeringen, Arie van; Kanhai, Humphrey H.H.; Roos, Raymund A.C.

doi:10.1002/(sici)1097-0223(199905)19:5<450::aid-pd568>3.0.co;2-l

Cited by 40 publications

(69 citation statements)

References 37 publications

(36 reference statements)

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“…In common with other reports, 5,14 this study has shown a greater number of women at risk who choose prenatal testing. This has not been investigated in this study, but it has been suggested 14 that men are less likely to make this decision since they do not wish to burden their wives who have to undergo the tests themselves.…”

Section: Discussionsupporting

confidence: 86%

Prenatal testing for Huntington's disease: a European collaborative study

Simpson¹,

Zoeteweij²,

Nys³

et al. 2002

Eur J Hum Genet

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This European study involving seven genetic centres from six countries -Aberdeen, Cardiff (UK), Leiden (Netherlands), Leuven (Belgium), Paris (France), Rome (Italy), Athens (Greece) has gathered information on prenatal testing by direct mutation analysis and exclusion testing for Huntington's disease (HD) from the six European countries during the period 1993 -1998. Data describing the parent belonging to the HD family was collected; this included their sex and age as well as their risk of developing HD. Information about previous pregnancies, the rank of the pregnancy being tested and its outcome was also gathered. In addition the number of previous prenatal tests for HD was recorded. Three hundred and five results were recorded by the participating countries between 1993 and 1998. The largest groups came from the UK (157) and the Netherlands (90). The mean age for the parent from the HD family was 30.8 years. In half of the tests the prospective parent was an asymptomatic gene carrier, 42% remained at risk, and 6% of the prospective parents were already showing clinical features of HD. 65% of tests performed used mutation analysis.

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Section: Discussionsupporting

confidence: 86%

Prenatal testing for Huntington's disease: a European collaborative study

Simpson¹,

Zoeteweij²,

Nys³

et al. 2002

Eur J Hum Genet

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“…11,14,15 In our study, male carriers were more likely to choose for PD/PGD, whereas females were more likely to refrain from having children. This may indicate that the mother is still recognised as the most important person for child caring and rearing in our society.…”

Section: Discussionmentioning

confidence: 51%

“…Already having children and religious beliefs were also factors in deciding against PD. 16 Taken into account the population in each country, the proportion of reported PD was highest in the Netherlands, 11,13 the UK, 12,13 Belgium 13 and Denmark. 17 In Leiden, the Netherlands, for instance, Maat-Kievit reported 72 prenatal tests in 43 couples (26 proven carriers and 17 at-risk persons) in the period 1987 -1997.…”

Section: Introductionmentioning

confidence: 99%

The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation

et al. 2007

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The aim of this study was to describe reproductive decisions in mutation carriers after predictive testing for Huntington's disease (HD) and to identify factors that play a role in decision-making. In -2004 individuals received a predictive test result; 89 of them were carriers and seven received an equivocal result. Quantitative data on reproductive behaviour have been collected during all follow-up contacts. The follow-up time in this study was 1-16 years (mean: 7.1 years). Qualitative data on reproductive decisionmaking have been collected by the means of semistructured interviews during the 5-year follow-up study. For 46 carriers and two persons with an equivocal result, family planning was one of the motives for predictive testing. In this group, slightly more than half of the carriers (58%) had chosen to have children with prenatal diagnosis or preimplantation genetic diagnosis and about one in three (35%) decided to have no children anymore after the test. A minority (7%) was undecided or had no children for other reasons. Factors playing a role in the decision-making process were the carrier's sex, ethical issues about PD and PGD, the strength of the desire to have children, illness representations including personal experiences with HD in the family and the technological imperative. Some of these elements were in conflict and induced ambivalence towards reproductive choices. The results illustrate the complexity of the decision-making process and the necessity of in-depth counselling. Counselling should pay special attention to conflicting values and beliefs and to all kinds of pressure.

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“…Even then, the uptake of pre-symptomatic testing remained low (19% in The Netherlands). 17 An important objection to exclusion testing is that the highest possible risk for the fetus is 50%. This is sometimes difficult to accept as reported by Tolmie et al 18 In a series of 13 prenatal exclusion tests, four tested at low risk, and nine tested at high risk.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, the 'right not to know' of the child would be violated. Another point was raised by Maat-Kievit et al 17 who stated that parents, after having used prenatal exclusion testing and if they are eventually found not to be a carrier or after staying asymptomatic into old age, could discover that TOP had been unnecessary. This is why eg in France, it is nearly impossible to receive the authorisation from a pluri-disciplinary PND centre for prenatal exclusion testing for HD.…”

Section: Discussionmentioning

confidence: 99%