Parental motivations for and adaptation to trio-exome sequencing in a prospective prenatal testing cohort: Beyond the diagnosis.
Parental motivations for and adaptation to trio-exome sequencing in a prospective prenatal testing cohort: Beyond the diagnosis.
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作者：
了解标准基因诊断阴性的胎儿异常的三外显子组测序（ES）结果的动机和父母解释。对一项正在进行的、前瞻性产前trio-ES研究进行分析，该研究针对的是超声确定的先天性异常和缺乏标准遗传学诊断的妊娠。在确定怀孕倾向后，参与者完成了问卷调查和测序前后的半结构化访谈。访谈进行了分析，使用建构主义扎根理论方法，以确定主题。主题和ES结果之间的关联也进行了研究。126个三人组已经测序。其中，45例（36%）导致胎儿诊断。125名女性完成了测序前调查，91名女性完成了测序后调查。确定的主要主题包括（1）追求ES的不同原因，（2）对ES的期望有限但寄予厚望，（3）父母对不确定结果的适应，（4）对个人健康和生殖的影响，以及（5）对过程的感激。参与者出于各种原因追求ES，最常见的是确定诊断和指导生殖。测序后，大多数参与者描述了过程，他们对结果的解释，以及收到结果的影响。不太频繁，但最关心的是，参与者表达了对测试的焦虑和对自己，关系和其他家庭成员的影响，从而确定了一个高度需要额外支持的产前ES患者的领域。
To understand motivations for and parental interpretation of results from trio-exome sequencing (ES) for fetal anomalies with a negative standard genetic diagnosis. Analysis of an ongoing, prospective prenatal trio-ES study of pregnancies with ultrasound-identified congenital anomalies and lack of a standard genetic diagnosis. After determination of pregnancy disposition, participants completed questionnaires and a semi-structured interview pre- and post-sequencing. Interviews were analyzed using a constructivist grounded theory methodology to identify themes. Associations between themes and ES result were also examined. One hundred twenty-six trios have been sequenced. Of those, 45 (36%) resulted in fetal diagnosis. One hundred twenty-five women completed pre-sequencing surveys, and 91 women completed post-sequencing surveys. The main themes identified include (1) variable reasons to pursue ES, (2) limited expectations but high hopes from ES, (3) parental adaptation to uncertain results, (4) impact on personal health and reproduction, and (5) gratitude for the process. Participants pursued ES for various reasons, most often to identify a diagnosis and guide reproduction. Post-sequencing, most participants described the process, their interpretation of results, and the impact of receiving the results. Less frequently, but of most concern, participants expressed anxiety about testing and implications for themselves, relationships, and other family members, thus identifying an area of high need for additional support among patients undergoing prenatal ES.
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影响因子：
3
作者：
Best S;Wou K;Vora N;Van der Veyver IB;Wapner R;Chitty LS
通讯作者：
Chitty LS
影响因子：
1.9
作者：
Halverson, Colin M. E.;Clift, Kristin E.;McCormick, Jennifer B.
通讯作者：
McCormick, Jennifer B.
影响因子：
168.9
作者：
Petrovski, Slave;Aggarwal, Vimla;Wapner, Ronald J.
通讯作者：
Wapner, Ronald J.
DOI：
10.1038/s41436-018-0087-4
发表时间：
2018-08
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Vora NL;Hui L
通讯作者：
Hui L
影响因子：
3
作者：
Rabeharisoa, Vololona;Bourret, Pascale
通讯作者：
Bourret, Pascale