"Something Extra on Chromosome 5": Parents' Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results.
"Something Extra on Chromosome 5": Parents' Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results.
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DOI：
10.1007/s10897-016-9943-z
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发表时间：
2016-10
影响因子：
1.9
通讯作者：
Bernhardt, Barbara A.
中科院分区：
文献类型：
--
作者：
Walser, Sarah A.;Werner-Lin, Allison;Russell, Amita;Wapner, Ronald J.;Bernhardt, Barbara A.
本研究旨在探讨夫妇对产前染色体微阵列分析（CMA）阳性结果的性质和后果的理解如何影响决策和对怀孕的关注。我们采访了28名妇女和12名男性合作伙伴后，收到积极的结果和分析成绩单，以评估他们的理解和关注水平的预期临床影响的结果。将受试者描述与原始实验室解释进行比较。当产前诊断时，夫妇对拷贝数变异（CNVs）的性质和后果的理解会影响决策和关注。研究结果表明，妇女，但不那么合作伙伴，一般了解产前CMA结果的性质和临床意义。当CNV遗传自“正常”父母时，夫妇会感到放心，有时可能是错误的，当CNV是从头遗传时，夫妇会经历相当大的不确定性，经常促使寻找额外的信息和指导。五个因素影响参与者的关注，包括：遗传模式，可能的表型参与类型，结果的感知，与CNV相关的结果的证据的可用性和强度，以及提供者关于继续妊娠的信息。当夫妇决定是否继续怀孕并寻求更多信息来协助怀孕决策时，充分了解结果至关重要。
This study aims to explore how couples’ understanding of the nature and consequences of positive prenatal chromosomal microarray analysis (CMA) results impacts decision-making and concern about pregnancy. We interviewed 28 women and 12 male partners after receiving positive results and analyzed the transcripts to assess their understanding and level of concern about the expected clinical implications of results. Participant descriptions were compared to the original laboratory interpretation. When diagnosed prenatally, couples’ understanding of the nature and consequences of copy number variants (CNVs) impacts decision-making and concern. Findings suggest women, but less so partners, generally understand the nature and clinical implications of prenatal CMA results. Couples feel reassured, perhaps sometimes falsely so, when a CNV is inherited from a “normal” parent and experience considerable uncertainty when a CNV is de novo, frequently precipitating a search for additional information and guidance. Five factors influenced participants’ concern including: the pattern of inheritance, type of possible phenotypic involvement, perceived manageability of outcomes, availability and strength of evidence about outcomes associated with the CNV, and provider messages about continuing the pregnancy. A good understanding of results is vital as couples decide whether or not to continue with their pregnancy and seek additional information to assist in pregnancy decision-making.
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