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PMID: 26174937 已发表 · ppublish 英语

Non-invasive Prenatal Diagnosis for BRCA Mutations - a Qualitative Pilot Study of Health Professionals' Views.

Journal of genetic counseling ·第 25 卷 ·第 1 期 ·2016-09-29

Bennett Jade, Chitty Lyn, Lewis Celine

摘要

Non-invasive prenatal diagnosis (NIPD) is a rapidly advancing approach that allows diagnostic testing based on analysis of cell free DNA in maternal plasma. This study aimed to explore the views of health professionals regarding the use of NIPD for BRCA1/2 mutations. Qualitative semi-structured interviews were conducted with eight participants. Whilst participants viewed NIPD in general as a positive step forward in prenatal testing, they were cautious about its use for BRCA testing. Significant ethical concerns emerged regarding testing prenatally for an adult onset condition, that is not fully penetrant, and the possibility of abrogating the rights of the future child to genetic autonomy. Nevertheless, participants did identify some situations whereby the test might be beneficial, such as for individuals with very negative and traumatic personal experiences of cancer desiring reassurance or wanting to prevent passing on the condition. NIPD was also seen as having benefits over invasive testing and pre-implantation genetic diagnosis, the only other options currently available to test prenatally for this condition. Exploring the views of a wider range of clinical specialties as well as patients at risk of hereditary breast cancer would be beneficial.

关键词
BRCA testing Cell-free fetal DNA Non-invasive prenatal diagnosis Qualitative
文献信息
期刊
Journal of genetic counseling
期刊简称
J Genet Couns
发表日期
2016-09-29
收录日期
2016-01-26
更新日期
2016-11-22
语言
英语
国家/地区
United States
NLM ID
9206865
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