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

MC van Rij; CEM de Die‐Smulders; EK Bijlsma; GMWR de Wert; JP Geraedts; RAC Roos; A Tibben

doi:10.1111/cge.12058

journal article Dec 14, 2012

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

MC van Rij CEM de Die‐Smulders EK Bijlsma GMWR de Wert JP Geraedts RAC Roos A Tibben

Clinical Genetics Vol. 83 No. 2 pp. 118-124 · Wiley

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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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References

Details

Published: Dec 14, 2012
Vol/Issue: 83(2)
Pages: 118-124
License: View

Authors

Cite This Article

MC van Rij, CEM de Die‐Smulders, EK Bijlsma, et al. (2012). Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands. Clinical Genetics, 83(2), 118-124. https://doi.org/10.1111/cge.12058

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

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