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使用全基因组或靶向游离DNA进行染色体异常的产前筛查:孕妇的偏好与满意度

Prenatal Screening of Chromosomal Anomalies Using Genome-Wide or Target Cell-Free DNA: Preferences and Satisfaction of Pregnant Women.

作者信息

Ardiles-Ruesjas Victoria, Viñals Roser, Pauta Montse, Madrigal Irene, Borrell Antoni

机构信息

BCNatal-Barcelona Centre for Maternal-Fetal and Neonatal Medicine, Hospital Clinic de Barcelona, 08036 Barcelona, Spain.

Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FRCB-IDIBAPS), 08036 Barcelona, Spain.

出版信息

J Clin Med. 2024 Aug 19;13(16):4888. doi: 10.3390/jcm13164888.

Abstract

: Cell-free DNA (cfDNA) is a non-invasive prenatal test used to screen for common trisomies (target cfDNA) that can be expanded to assess all autosomal chromosomes (genome-wide cfDNA). As cfDNA testing gains popularity, it is crucial to examine the factors influencing the decision-making process of pregnant individuals when choosing between these two approaches. : In this prospective cohort study, 190 individuals undergoing cfDNA testing for aneuploidy screening, according to the current screening protocol, were allowed to make their own choice between target and genome-wide cfDNA testing. They were asked to complete a first survey at 11-13 weeks, designed to explore their characteristics, preferences, and satisfaction with the prenatal genetic counseling session, as well as a Decisional Conflict Scale. A postnatal survey was administered three months after delivery, including the Decisional Regret Scale and two open questions. : 84% of participants opted for genome-wide cfDNA. However, 17% found the decision challenging, and 14% felt that the results might increase anxiety. No significant differences in participant characteristics were found when comparing decisions between genome-wide and target cfDNA. However, significant differences were observed regarding ethnicity ( = <0.001), educational level ( = 0.029), previous cfDNA experience ( = 0.004), and having sufficient information when comparing termination options ( = 0.002). After delivery, only 4% would have changed their decision. : Individuals, regardless of their characteristics, prefer genome-wide cfDNA; however, the complexity of the results necessitates enhanced genetic education for prenatal care clinicians.

摘要

游离DNA(cfDNA)是一种用于筛查常见三体性疾病(目标cfDNA)的非侵入性产前检测方法,该方法可扩展用于评估所有常染色体(全基因组cfDNA)。随着cfDNA检测越来越受欢迎,在这两种检测方法之间做出选择时,研究影响孕妇决策过程的因素至关重要。

在这项前瞻性队列研究中,根据当前的筛查方案,190名接受cfDNA检测以进行非整倍体筛查的个体被允许在目标cfDNA检测和全基因组cfDNA检测之间自行选择。他们被要求在孕11至13周时完成首次调查,该调查旨在探究他们的特征、偏好、对产前遗传咨询的满意度以及决策冲突量表。产后三个月进行了一项产后调查,包括决策后悔量表和两个开放性问题。

84%的参与者选择了全基因组cfDNA检测。然而,17%的人认为这个决定具有挑战性,14%的人觉得检测结果可能会增加焦虑感。在比较全基因组cfDNA检测和目标cfDNA检测的决策时,未发现参与者特征存在显著差异。然而,在种族(P<0.001)、教育水平(P = 0.029)、之前的cfDNA检测经历(P = 0.004)以及在比较终止妊娠选项时是否有足够信息(P = 0.002)方面观察到了显著差异。产后,只有4%的人会改变他们的决定。

无论个体特征如何,他们都更喜欢全基因组cfDNA检测;然而,检测结果的复杂性要求加强对产前护理临床医生的遗传教育。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7ff/11355369/fa456388599e/jcm-13-04888-g001.jpg

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