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Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands
Author(s) -
van Rij MC,
de DieSmulders CEM,
Bijlsma EK,
de Wert GMWR,
Geraedts JP,
Roos RAC,
Tibben A
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12058
Subject(s) - regret , genetic counseling , huntington's disease , preimplantation genetic diagnosis , genetic testing , disease , medicine , prenatal diagnosis , pregnancy , psychology , social exclusion , gynecology , family medicine , psychiatry , genetics , fetus , biology , machine learning , computer science , economics , economic growth
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.