TY - JOUR
T1 - Reproductive options for prospective parents in families with Huntingtons disease: clinical, psychological and ethical reflections
AU - de Die-Smulders, C. E. M.
AU - de Wert, G. M. W. R.
AU - Liebaers, I.
AU - Tibben, A.
AU - Evers-Kiebooms, G.
PY - 2013
Y1 - 2013
N2 - Huntingtons disease (HD) is an autosomal dominant neurodegenerative late onset disorder. This review of reproductive options aims to increase reproductive confidence and to prevent suffering in relation to family planning around HD and possibly other late onset neurodegenerative disorders. Selected relevant literature and own views and experiences as clinical geneticists, psychologists and ethicists have been used. Possible options, with emphasis on prenatal diagnosis (PD) and preimplantation genetic diagnosis (PGD) to prevent the transmission of HD to the next generation, are described and discussed. They are formally presented in a decision tree, taking into account the presence or absence of a fully penetrant allele (FPA), a reduced penetrant allele (RPA) or an intermediate allele (IA). A table compares invasive and non-invasive PD and PGD. From a psychological perspective, the complex process of counselling and decision-making regarding reproductive options is discussed. Special attention is paid to the decision to avoid the transmission of the mutation and to the confrontation and coping of a mutation-free child growing up with a parent developing disease symptoms. From an ethical point of view, reflections on both PD and PGD are brought forward taking into account the difference between FPA, RPA and IA, direct testing or exclusion testing and taking into account the welfare of the child in the context of medically assisted reproduction. Recommendations and suggestions for good clinical practice in the reproductive care for HD families are formulated.
AB - Huntingtons disease (HD) is an autosomal dominant neurodegenerative late onset disorder. This review of reproductive options aims to increase reproductive confidence and to prevent suffering in relation to family planning around HD and possibly other late onset neurodegenerative disorders. Selected relevant literature and own views and experiences as clinical geneticists, psychologists and ethicists have been used. Possible options, with emphasis on prenatal diagnosis (PD) and preimplantation genetic diagnosis (PGD) to prevent the transmission of HD to the next generation, are described and discussed. They are formally presented in a decision tree, taking into account the presence or absence of a fully penetrant allele (FPA), a reduced penetrant allele (RPA) or an intermediate allele (IA). A table compares invasive and non-invasive PD and PGD. From a psychological perspective, the complex process of counselling and decision-making regarding reproductive options is discussed. Special attention is paid to the decision to avoid the transmission of the mutation and to the confrontation and coping of a mutation-free child growing up with a parent developing disease symptoms. From an ethical point of view, reflections on both PD and PGD are brought forward taking into account the difference between FPA, RPA and IA, direct testing or exclusion testing and taking into account the welfare of the child in the context of medically assisted reproduction. Recommendations and suggestions for good clinical practice in the reproductive care for HD families are formulated.
KW - reproduction
KW - Huntingtons disease
KW - prenatal diagnosis
KW - preimplantation genetic diagnosis
U2 - 10.1093/humupd/dms058
DO - 10.1093/humupd/dms058
M3 - Article
C2 - 23377865
SN - 1355-4786
VL - 19
SP - 304
EP - 315
JO - Human Reproduction Update
JF - Human Reproduction Update
IS - 3
ER -