Women's experiences receiving abnormal prenatal chromosomal microarray testing results
Women's experiences receiving abnormal prenatal chromosomal microarray testing results
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DOI：
10.1038/gim.2012.113
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发表时间：
2013-02-01
影响因子：
8.8
通讯作者：
Wapner, Ronald J.
中科院分区：
文献类型：
--
作者：
Bernhardt, Barbara A.;Soucier, Danielle;Wapner, Ronald J.
目的：基因组微阵列可以检测到传统细胞遗传学检测不到的拷贝数变异。这项技术正在迅速扩散到产前设置，尽管许多拷贝数变异的临床意义目前尚不清楚。我们进行了一项定性试点研究，以探索在研究环境中接受产前微阵列测试异常结果的妇女的经历。方法：参与者是参与多中心前瞻性研究“基于阵列拷贝数分析的产前细胞遗传学诊断”的女性子集。对23名产前微阵列检查结果异常的妇女进行了电话采访。结果：我们发现五个关键因素主导了接受异常产前微阵列结果的妇女的经历：一个太好了而不能错过的机会，结果措手不及，不确定性和不可量化的风险，需要支持，有毒的知识。结论：随着产前微阵列检测越来越多的使用，不确定的结果将是普遍的，导致更需要仔细的前和测试后咨询，更多的教育和资源的提供者，使他们能够充分支持妇女接受检测。中华医学杂志，2013,31 (2):559 - 559
Purpose: Genomic microarrays can detect copy-number variants not detectable by conventional cytogenetics. This technology is diffusing rapidly into prenatal settings even though the clinical implications of many copy-number variants are currently unknown. We conducted a qualitative pilot study to, explore the experiences of women receiving abnormal results from prenatal microarray testing performed in a research setting.Methods: Participants were a subset of women participating in a multicenter prospective study "Prenatal Cytogenetic Diagnosis by Array-based Copy Number Analysis." Telephone interviews were conducted with 23 women receiving abnormal prenatal microarray results.Results: We found that five key elements dominated the experiences of women who had received abnormal prenatal microarray results: an offer too good to pass up, blindsided by the results, uncertainty and unquantifiable risks, need for support, and toxic knowledge.Conclusion: As prenatal microarray testing is increasingly used, uncertain findings will be common, resulting in greater need for careful pre- and posttest counseling, and more education of and resources for providers so they can adequately support the women who are undergoing testing. Genet Med 2013:15(2):139-145