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J Inherit Metab Dis ; 41(5): 791-797, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29671189

RESUMO

Classic galactosemia is a rare inherited disorder of galactose metabolism. Primary ovarian insufficiency (POI) with subfertility affects > 80% of female patients and is an important concern for patients and their parents. Healthcare providers are often consulted for subfertility treatment possibilities. An option brought up by the families is intrafamilial oocyte donation (mother-to-daughter or sister-to-sister). In addition to POI, galactosemia patients can also present varying cognitive and neurological impairments, which may not be fully clear at the time when mother-to-daughter oocyte donation is considered. Ethical and societal aspects arise when exploring this option. This study aimed to provide guidance in aspects to consider based on the views of different groups involved in the oocyte donation process. A qualitative study using in-depth semi-structured interviews with > 50 participants (patients, family members, and healthcare providers) was conducted. From these interviews, themes of concern emerged, which are illustrated and reviewed: (1) family relations, (2) medical impact, (3) patients' cognitive level, (4) agreements to be made in advance and organization of counseling, (5) disclosure to the child, and (6) need for follow-up. We conclude that discussing and carrying out intrafamilial oocyte donation in galactosemia patients requires carefully addressing these themes. This study adds value to the already existing recommendations on intrafamilial oocyte donation in general, since it highlights important additional aspects from the perspectives of patients and their families.


Assuntos
Preservação da Fertilidade/ética , Galactosemias/fisiopatologia , Infertilidade/etiologia , Doação de Oócitos/ética , Insuficiência Ovariana Primária/etiologia , Feminino , Humanos , Entrevistas como Assunto , Mães , Países Baixos , Núcleo Familiar , Insuficiência Ovariana Primária/complicações , Pesquisa Qualitativa
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