Werner-Lin Allison, Barg Frances K, Kellom Katherine S, Stumm Kallyn J, Pilchman Lisa, Tomlinson Ashley N, Bernhardt Barbara A
University of Pennsylvania, Philadelphia, Pennsylvania, USA
University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Qual Health Res. 2016 Dec;26(14):1975-1987. doi: 10.1177/1049732315603367. Epub 2015 Sep 8.
In 2% to 3% of cases, prenatal microarray testing detects deletions and duplications in a fetus' genome that are undetected by conventional cytogenetics. Many of these changes are associated with variable or uncertain symptomatology. Little is known about how couples experience uncertain results. This study analyzed 24 interviews with members of 12 heterosexual U.S. couples who received pathogenic or uncertain microarray prenatal testing results. Researchers used narrative analysis to examine couples' understanding and incorporation of findings into decision making regarding pregnancy termination. Couples felt unprepared for these findings and frustrated because scant information was available to aid interpretation. Women sought information and made decisions, and men marginalized their distress to support their wives. A shift in voice from first to second person indicated attempts to normalize emotional responses by making the process "common" to all couples. Families pursuing highly sensitive prenatal testing may need expert guidance to support decision making.
在2%至3%的病例中,产前微阵列检测能发现胎儿基因组中的缺失和重复,而这些是传统细胞遗传学检测无法检测到的。其中许多变化与症状的多变或不确定有关。对于夫妻如何面对不确定的检测结果,我们知之甚少。本研究分析了对12对美国异性恋夫妻的成员进行的24次访谈,这些夫妻收到了致病性或不确定的微阵列产前检测结果。研究人员采用叙事分析方法,研究夫妻对检测结果的理解以及如何将这些结果纳入关于终止妊娠的决策过程。夫妻们对这些结果毫无准备且感到沮丧,因为几乎没有可用信息来辅助解读。女性寻求信息并做出决策,而男性则将自己的痛苦边缘化以支持妻子。从第一人称到第二人称的语气转变表明,他们试图通过使这个过程对所有夫妻都“常见”来让情绪反应正常化。进行高灵敏度产前检测的家庭可能需要专家指导来辅助决策。