Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands

Authors

  • MC van Rij,

    1. Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, the Netherlands
    2. Department of Neurology, Leiden University Medical Centre (LUMC), Leiden, the Netherlands
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  • CEM de Die-Smulders,

    1. Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, the Netherlands
    2. GROW, Research school for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands
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  • EK Bijlsma,

    1. Centre for Human and Clinical Genetics, Leiden University Medical Centre (LUMC), Leiden, the Netherlands
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  • GMWR de Wert,

    1. GROW, Research school for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands
    2. Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands
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  • JP Geraedts,

    1. Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, the Netherlands
    2. GROW, Research school for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands
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  • RAC Roos,

    1. Department of Neurology, Leiden University Medical Centre (LUMC), Leiden, the Netherlands
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  • A Tibben

    1. Centre for Human and Clinical Genetics, Leiden University Medical Centre (LUMC), Leiden, the Netherlands
    2. Department of Clinical Genetics, Erasmus Medical Centre Rotterdam (EMCR), Rotterdam, the Netherlands
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Prof Aad, Tibben, PhD, Centre for Human and Clinical Genetics, Department of Clinical Genetics, Section Genetic Counselling, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, theNetherlands.
Tel: +31 (0) 71 526 8033;
fax: +31 (0) 71 526 6749;
e-mail: a.tibben@lumc.nl

Abstract

van Rij MC, de Die-Smulders CEM, Bijlsma EK, de Wert GMWR, Geraedts JP, Roos RAC, Tibben A. Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands.

Individuals at 50% risk of Huntington's disease (HD) who prefer not to know their carrier status, might opt for exclusion prenatal diagnosis (ePND) or exclusion preimplantation genetic diagnosis (ePGD). This study aims to provide a better understanding of couples' motives for choosing ePND or ePND, and surveys couples' experiences in order to make recommendations for the improvement of counselling for exclusion testing. This qualitative retrospective interview study focussed on couples who underwent ePND or ePGD for HD in the period 1996–2010. Seventeen couples were included of which 13 had experienced ePND and 6 ePGD. Mean time-interval since exclusion-testing was 3.9 years. Couples' moral reservations regarding termination of pregnancy (TOP) or discarding healthy embryos were counterbalanced by the wish to protect their future child against HD. Seven couples had terminated a total of 11 pregnancies with a 50% HD risk, none showed regret. ePGD was used by couples who wanted to avoid (another) TOP. ePND and ePGD are acceptable reproductive options for a specific group of counsellees. To guarantee sound standards of care, it is imperative that candidate couples be given in-depth non-directive counselling about all possible scenarios, and adequate professional and psychological support prior to, during and after ePND/ePGD.

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