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Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult‐onset findings from chromosomal‐microarray‐analysis
Prenatal Diagnosis ( IF 2.7 ) Pub Date : 2020-10-31 , DOI: 10.1002/pd.5856
Talya Millo 1 , Liza Douiev 1 , Dov Popper 1 , Shiri Shkedi-Rafid 1, 2
Affiliation  

Chromosomal‐microarray‐analysis (CMA) can identify variants of uncertain clinical significance, susceptibility‐loci for neurodevelopmental conditions, and risk for adult‐onset conditions. We explored choices made by couples undergoing prenatal CMA, their understanding of these findings, reasons for and against receiving them, and whether they believe parents or professionals should decide which are disclosed.

中文翻译:

个性化产前基因组检测:夫妇在染色体微阵列分析中关于不确定和成人发病结果的选择经验

染色体微阵列分析 (CMA) 可以识别临床意义不确定的变异、神经发育状况的易感性位点和成人发病风险。我们探讨了接受产前 CMA 的夫妇所做的选择、他们对这些发现的理解、接受和反对接受这些发现的原因,以及他们是否认为父母或专业人士应该决定披露哪些。
更新日期:2020-10-31
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