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Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners

BACKGROUND: Diagnosis of a child with a genetic condition leads to parents asking whether there is a risk the condition could occur again with future pregnancies. If the cause is identified as an apparent de novo mutation (DNM), couples are currently given a generic, population average, recurrence r...

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Detalles Bibliográficos
Autores principales: Kay, Alison C, Wells, Jonathan, Hallowell, Nina, Goriely, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447403/
https://www.ncbi.nlm.nih.gov/pubmed/36931705
http://dx.doi.org/10.1136/jmg-2023-109183