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围绕胚胎植入前非整倍体遗传学检测的认知、动机和决策后悔。

Perceptions, motivations and decision regret surrounding preimplantation genetic testing for aneuploidy.

机构信息

Department of Obstetrics, Gynecology and Reproductive Sciences, University of California-San Francisco, San Francisco, CA, USA.

Department of Obstetrics and Gynecology, University of California-Los Angeles, Los Angeles, CA, USA.

出版信息

Hum Reprod. 2020 Sep 1;35(9):2047-2057. doi: 10.1093/humrep/deaa154.

DOI:10.1093/humrep/deaa154
PMID:32756971
Abstract

STUDY QUESTION

Is there a difference in level of decision regret following IVF treatment between those who choose to complete or not complete preimplantation genetic testing for aneuploidy [PGT-A]?

SUMMARY ANSWER

Approximately one-third of the participants expressed moderate to severe regret (MSR) following their decision to either complete or not complete PGT-A; notably, decision regret was higher in those who chose not to complete PGT-A, primarily driven by significantly higher regret scores in those that experienced a miscarriage after not testing.

WHAT IS KNOWN ALREADY

Previous research has found that 39% of participants who completed PGT-A expressed some degree of decision regret and that negative clinical outcomes, such as lack of euploid embryos, negative pregnancy test or miscarriage, were associated with a higher level of decision regret. To date, there are no published studies assessing the possible disparity in decision regret surrounding PGT-A in a population of IVF patients that either chose to pursue PGT-A or not.

STUDY DESIGN, SIZE, DURATION: An anonymous online survey was distributed to 1583 patients who underwent IVF with or without PGT-A at a single university institution between January 2016 and December 2017. In total, 335 women accessed the survey, 220 met eligibility criteria and 130 completed the full study survey. Six participants were excluded due to refusal of medical record review, and nine participants were excluded after record review due to not meeting eligibility based on cycle start date or completing only embryo banking without attempting transfer. One hundred and fifteen participants were included in the final analysis.

PARTICIPANTS/MATERIALS, SETTING, METHODS: Of the 115 participants included, 55 (48%) completed PGT-A and 60 (52%) did not complete PGT-A. The online survey included four sections: Demographics; Perceptions about PGT-A risks and benefits [scale from 0 (absolutely not true) to 100 (absolutely true)]; Decision-making factors [scale from 0 (not important) to 100 (very important)]; and Brehaut Decision Regret Scale [DRS] [range 0-100, with >25 indicating MSR]. A retrospective chart review was conducted to confirm study eligibility and collect cumulative clinical outcomes of consenting participants who completed the survey.

MAIN RESULTS AND THE ROLE OF CHANCE

Demographics of the PGT-A and no PGT-A cohorts were similar, with the majority of respondents being Caucasian or Asian, unaffiliated with any religion and with a graduate or professional degree. The two groups differed significantly in mean age, with the PGT-A group being slightly older (mean ± SD: 37 ± 3.7 versus 36 ± 3.4; P = 0.048), and in rate of miscarriages, with fewer participants in the PGT-A cohort experiencing a miscarriage (5% versus 22%; P = 0.012). The majority of participants in both PGT-A and no PGT-A cohorts strongly believed in the purported benefits of PGT-A, including that it decreases the risk of birth defects (median 82 versus 77; P = 0.046), improves the chances of having a healthy baby (median 89 versus 74; P = 0.002) and selects the best embryo for transfer (median 85 versus 80; P = 0.049). When asked to report their motivating factors for decision-making, both groups cited physician counseling as important (median 70 versus 71; P = 0.671); however, the PGT-A cohort was more strongly motivated by a desire to not transfer abnormal embryos (median 84 versus 53; P = 0.0001). Comparison of DRS score between those who did or did not undergo PGT-A showed significantly higher median DRS score after not completing PGT-A (median 15 versus 0; P = 0.013). There was a significantly higher proportion of participants who did not complete PGT-A that expressed mild (36% versus 16%) and MSR (32% versus 24%) compared to those who completed PGT-A (χ2 = 9.03, df = 2; P = 0.011). Sub-group analyses of DRS scores by outcomes of clinical pregnancy, miscarriage and live birth revealed that the higher DRS score in those not completing PGT-A was driven by a large increase in regret noted by those with history of a miscarriage (median 45 versus 0; P = 0.018). Multivariate logistic regression modeling found no evidence that any specific demographic factor, clinical outcome or perception/motivation surrounding PGT-A was independently predictive of increased risk for MSR.

LIMITATIONS, REASONS FOR CAUTION: The retrospective nature of data collection incurs the possibility of sampling and recall bias. As only 59% of eligible respondents completed the full survey, it is possible that mainly those with very positive or negative sentiments following treatment felt compelled to complete their response. This bias, however, would apply to the whole of the population, and not simply to those who did or did not complete PGT-A.

WIDER IMPLICATIONS OF THE FINDINGS

The proportion of participants expressing any degree of decision regret in this PGT-A cohort was 40%, which is comparable to that shown in prior research. This study adds to prior data by also assessing decision regret experienced by those who went through IVF without PGT-A, and showed that 68% expressed some level of regret with their decision-making. These results should not be interpreted to mean that all patients should opt for PGT-A to pre-emptively mitigate their risk of regret. Instead, it suggests that drivers of decision regret are likely multifactorial and unique to the experience of one's personal expectations regarding PGT-A, motivations for pursuing or not pursuing it and resultant clinical outcome. Highlighting the complex nature of regret, these data should encourage physicians to more carefully consider individual patient values toward risk-taking or risk-averse behavior, as well as their own positions regarding PGT-A. Until there are clear recommendations regarding utilization of PGT-A, a strong collaboration between physicians and genetic counselors is recommended to educate patients on the risks and potential benefits of PGT-A in a balanced and individualized manner.

STUDY FUNDING/COMPETING INTEREST(S): No funding was utilized for study completion and the authors have no competing interests.

TRIAL REGISTRATION NUMBER

N/A.

摘要

研究问题

在选择完成或不完成非整倍体[PGT-A]植入前遗传学检测的 IVF 治疗的参与者中,决策后悔的程度是否存在差异?

总结答案

大约三分之一的参与者表示,在决定完成或不完成 PGT-A 后,他们会感到中度至重度后悔(MSR);值得注意的是,选择不完成 PGT-A 的参与者的决策后悔程度更高,这主要是由于未接受检测而导致流产的参与者的后悔评分显著更高。

已知事实

先前的研究发现,39%的接受 PGT-A 的参与者表示存在某种程度的决策后悔,并且负面的临床结果,如缺乏整倍体胚胎、阴性妊娠试验或流产,与更高水平的决策后悔有关。迄今为止,尚无发表的研究评估在选择进行或不进行 PGT-A 的 IVF 患者群体中,围绕 PGT-A 的决策后悔是否存在差异。

研究设计、规模、持续时间:2016 年 1 月至 2017 年 12 月,在一家大学机构接受 IVF 治疗的 1583 名患者中,以匿名在线调查的形式分发了一份问卷。共有 335 名女性访问了该调查,220 名符合入选标准,130 名完成了完整的研究调查。由于拒绝病历审查,有 6 名参与者被排除在外,由于根据周期开始日期或仅完成胚胎储存而未尝试转移而不符合入选标准,有 9 名参与者在病历审查后被排除在外。115 名参与者被纳入最终分析。

参与者/材料、设置、方法:在 115 名参与者中,55 名(48%)完成了 PGT-A,60 名(52%)未完成 PGT-A。在线调查包括四个部分:人口统计学;对 PGT-A 风险和益处的看法[范围从 0(绝对不真实)到 100(绝对真实)];决策因素[范围从 0(不重要)到 100(非常重要)];和 Brehaut 决策后悔量表[DRS][范围 0-100,>25 表示中度至重度后悔]。进行了回顾性病历审查,以确认研究资格,并收集完成调查的同意参与者的累积临床结果。

主要结果和机会的作用

PGT-A 和无 PGT-A 队列的人口统计学特征相似,大多数受访者为白种人或亚洲人,与任何宗教无关,拥有研究生或专业学位。两组在平均年龄上有显著差异,PGT-A 组年龄稍大(平均±标准差:37±3.7 岁与 36±3.4 岁;P=0.048),流产率较低,PGT-A 组流产的参与者较少(5%与 22%;P=0.012)。PGT-A 和无 PGT-A 两组的大多数参与者都强烈相信 PGT-A 的所谓益处,包括降低出生缺陷的风险(中位数 82 与 77;P=0.046)、提高生育健康婴儿的机会(中位数 89 与 74;P=0.002)和选择最佳胚胎进行移植(中位数 85 与 80;P=0.049)。当被问及决策的动机因素时,两组都将医生咨询列为重要因素(中位数 70 与 71;P=0.671);然而,PGT-A 组更强烈地希望不转移异常胚胎(中位数 84 与 53;P=0.0001)。比较是否进行 PGT-A 治疗的参与者的 DRS 评分,发现未完成 PGT-A 的参与者的 DRS 评分中位数明显更高(中位数 15 与 0;P=0.013)。与完成 PGT-A 的参与者相比,未完成 PGT-A 的参与者中有更高比例的参与者表示轻微(36%与 16%)和中度至重度后悔(32%与 24%)(χ2=9.03,df=2;P=0.011)。对临床妊娠、流产和活产的 DRS 评分进行亚组分析,发现未完成 PGT-A 的参与者的 DRS 评分升高,主要是由于有流产史的参与者表示后悔程度显著增加(中位数 45 与 0;P=0.018)。多变量逻辑回归模型未发现任何特定的人口统计学因素、临床结果或围绕 PGT-A 的感知/动机是增加 MSR 风险的独立预测因素。

局限性、谨慎的原因:数据收集的回顾性性质存在抽样和回忆偏倚的可能性。由于只有 59%的合格受访者完成了完整的调查,因此主要是那些对治疗后有非常积极或消极情绪的人觉得有必要完成他们的回答。然而,这种偏见将适用于整个人群,而不仅仅是那些进行或不进行 PGT-A 的人。

研究结果的更广泛意义

该 PGT-A 队列中表达任何程度决策后悔的参与者比例为 40%,与先前研究中的数据相似。本研究通过评估未进行 PGT-A 的 IVF 患者的决策后悔情况,补充了先前的数据,并表明 68%的患者对他们的决策感到某种程度的后悔。这些结果不应被解释为所有患者都应该选择 PGT-A 来预先减轻他们后悔的风险。相反,这表明决策后悔的驱动因素可能是多方面的,并且与个人对 PGT-A 的期望、追求或不追求它的动机以及由此产生的临床结果有关。这些数据强调了后悔的复杂性,应鼓励医生更仔细地考虑患者对冒险或避险行为的个人风险承受能力,以及他们自己对 PGT-A 的立场。在明确推荐 PGT-A 的使用之前,强烈建议医生和遗传咨询师之间建立强有力的合作关系,以平衡和个性化的方式教育患者 PGT-A 的风险和潜在益处。

研究资金/利益冲突:研究完成未使用任何资金,作者没有利益冲突。

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