OBJECTIVE To determine the rate of utilization, factors influencing the decision-making process, and patient satisfaction with preimplantation genetic diagnosis for monogenic disorders (PGT-M). DESIGN Survey study. SETTING Academic center. PATIENT(S) Genetically at-risk patients seen for PGT-M consultation between January 2010 and 2018. INTERVENTION(S) Electronic survey including demographics, genetic history, consultation experience, decision-making process, and satisfaction with PGT-M process. MAIN OUTCOME MEASURE(S) Rate of utilization of PGT-M, importance of decision-making factors, and satisfaction with PGT-M process. RESULT(S) Among survey respondents (n = 49), the rate of utilization of PGT-M after consultation was 89.8%. Ninety-three percent of participants decided whether to pursue PGT-M within 3 months of consultation. Factors that were considered most important to this decision-making process included information provided at consultation, accuracy of test results after PGT-M, avoidance of suffering of an affected child, and ability to avoid termination of an affected pregnancy. Key barriers to utilization included financial burden and overall complexity of the in vitro fertilization (IVF)/PGT-M process. Of those utilizing PGT-M (n = 44), 72.1% had at least one live birth or were pregnant during the study period. Satisfaction with PGT-M was high, and most couples would use IVF/PGT-M for a future pregnancy (84.1%). Participants with a live birth were more satisfied with the PGT-M process than those who had no live birth. CONCLUSION(S) Most patients seeking consultation for PGT-M were likely to pursue this technology despite financial burden and complexity of the process. Exploring factors that influence patient decision-making regarding PGT-M is important for tailoring the consultation and optimizing the overall experience.

中文翻译：

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胚胎植入前基因检测在单基因疾病中的应用

目的 确定使用率、影响决策过程的因素以及患者对单基因疾病（PGT-M）植入前遗传学诊断的满意度。设计调查研究。设置学术中心。PATIENT(S) 2010 年 1 月至 2018 年间接受 PGT-M 咨询的有遗传风险的患者。 干预 电子调查，包括人口统计学、遗传病史、咨询经验、决策过程和对 PGT-M 过程的满意度。主要结果测量 PGT-M 的使用率、决策因素的重要性以及对 PGT-M 过程的满意度。结果（S） 在调查对象（n = 49）中，咨询后 PGT-M 的使用率为 89.8%。93% 的参与者在咨询后的 3 个月内决定是否进行 PGT-M。被认为对这一决策过程最重要的因素包括咨询时提供的信息、PGT-M 后测试结果的准确性、避免受影响儿童的痛苦以及避免终止受影响妊娠的能力。使用的主要障碍包括财务负担和体外受精 (IVF)/PGT-M 过程的整体复杂性。在使用 PGT-M 的人中（n = 44），72.1% 的人在研究期间至少有一次活产或怀孕。对 PGT-M 的满意度很高，大多数夫妇会在未来怀孕时使用 IVF/PGT-M（84.1%）。与没有活产的参与者相比，活产的参与者对 PGT-M 过程更满意。结论 大多数寻求 PGT-M 咨询的患者可能会寻求这项技术，尽管该技术有经济负担和复杂性。探索影响患者关于 PGT-M 决策的因素对于定制咨询和优化整体体验很重要。