Prenatal whole-exome sequencing: parental attitudes
Prenatal whole-exome sequencing: parental attitudes
复制标题
DOI：
10.1002/pd.4635
复制
发表时间：
2015-10-01
影响因子：
3
通讯作者：
Rajkovic, Aleksandar
中科院分区：
文献类型：
--
作者：
Kalynchuk, Eve J.;Althouse, Andrew;Rajkovic, Aleksandar
目的：本研究旨在调查准父母对产前全外显子组测序的看法。方法：该研究使用了一份调查问卷，重点关注在三级学术医疗中心进行妊娠早期产前筛查的个体的产前全外显子组测序的可接受性。共有186名孕妇完成了问卷调查。采用描述性统计和logistic回归模型对问卷结果进行分析。结果：83%的参与者回答应该提供产前全外显子组测序，14.8%的人持中立态度，只有2.2%的人不同意。54%的参与者对胎儿进行产前全外显子组测序感兴趣，40.1%的人持中立态度，6.6%的人不同意。大多数参与者表示希望了解可治疗（96.2%）和不可治疗（86.3%）的儿童疾病，大多数人表示希望了解可治疗（76.0%）和不可治疗（74.3%）的成人发病疾病。超过一半的参与者（59.7%）表示产前全外显子组测序的最大可接受周转时间为3周或更短。结论：大多数受访者认为应该提供产前全外显子组测序。此外，大多数人希望在产前了解可治疗和不可治疗的儿童和成人疾病。(c) 2015 John Wiley & Sons, Ltd.
Objective: The aim of this study was to survey the opinions of expectant parents regarding prenatal whole-exome sequencing.Methods: The study used a questionnaire that focused on acceptability of prenatal whole-exome sequencing to individuals who pursued first-trimester prenatal screening in a tertiary academic medical center. A total of 186 expectant individuals completed the questionnaire. The results of the questionnaire were analyzed using descriptive statistics and logistic regression models.Results: Eighty-three percent of the participants answered that prenatal whole-exome sequencing should be offered, 14.8% were neutral, and only 2.2% disagreed. Fifty-four percent of the participants were interested in having prenatal whole-exome sequencing for their fetus, 40.1% were neutral, and 6.6% disagreed. The majority of participants expressed a desire to know about treatable (96.2%) and non-treatable (86.3%) childhood conditions, and most said the same for treatable (76.0%) and non-treatable (74.3%) adult-onset conditions. Over half of the participants (59.7%) indicated a maximum acceptable turnaround time of 3weeks or less for prenatal whole-exome sequencing.Conclusions: The majority of respondents felt prenatal whole-exome sequencing should be offered. Moreover, the majority wanted to know prenatally about treatable and non-treatable childhood and adult conditions. (c) 2015 John Wiley & Sons, Ltd.