作者
Erin Turbitt, Meg Bourne, Alison McEwen, David J Amor
发表日期
2023/12/18
期刊
Developmental Medicine & Child Neurology
简介
Aim
To investigate parents' preferences and motivations for receiving and discussing prognostic genetic test results.
Method
We used a cross‐sectional, interpretive description qualitative study design. We collected data through semi‐structured interviews with Australian parents, which we analysed using reflexive thematic analysis.
Results
Parents (n = 32) had a child or children with a genetic neurodevelopmental condition, such as fragile X syndrome, DiGeorge (22q11.2 deletion) syndrome, or Angelman syndrome. Parents of mildly impacted or older children were tolerant to prognostic uncertainty. Parents found conversations about their child's prognosis emotional and preferred to discuss their child's potential strengths and challenges. While most were enthusiastic about prognostic tests and described many motivations for testing, the potential for prognostic information to contribute to a loss of hope and …
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