Prenatal Genomics & Therapy Section, Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
Department of Bioethics, Clinical Center, Bethesda, Maryland, USA.
Prenat Diagn. 2023 Aug;43(9):1101-1109. doi: 10.1002/pd.6406. Epub 2023 Jul 21.
To explore patient perspectives after receiving non-invasive prenatal testing (NIPT) results that suggest maternal cancer.
Individuals who received non-reportable or discordant NIPT results during pregnancy and enrolled in a study were interviewed prior to and after receiving the outcome of their clinical evaluation for cancer. Interviews were independently coded by two researchers and analyzed thematically.
Forty-nine participants were included. Three themes were identified: 1) limited pre-test awareness of maternal incidental findings caused considerable confusion for participants, whose initial concerns focused on their babies; 2) providers' communication influenced how participants perceived their risk of cancer and the need to be evaluated; and 3) participants perceived value in receiving maternal incidental findings from NIPT despite any stress it caused during their pregnancy.
Participants viewed the ability to detect occult malignancy as an added benefit of NIPT and felt strongly that these results should be disclosed. Obstetric providers need to be aware of maternal incidental findings from NIPT, inform pregnant people of the potential to receive these results during pre-test counseling, and provide accurate and objective information during post-test counseling.
Incidental Detection of Maternal Neoplasia Through Non-Invasive Cell-Free DNA Analysis (IDENTIFY), a Natural History Study, NCT4049604.
探讨接受提示母体癌症的非侵入性产前检测(NIPT)结果后患者的观点。
在怀孕期间接受非报告或不一致的 NIPT 结果并参加研究的个体,在接受癌症临床评估结果之前和之后接受采访。采访由两名研究人员独立编码,并进行主题分析。
共纳入 49 名参与者。确定了三个主题:1)参与者在测试前对母体偶然发现的认识有限,这给他们带来了相当大的困惑,他们最初的关注点集中在婴儿身上;2)提供者的沟通影响了参与者对自身癌症风险和评估需求的看法;3)尽管 NIPT 在怀孕期间带来了压力,但参与者认为从 NIPT 中获得母体偶然发现具有价值。
参与者认为检测隐匿性恶性肿瘤的能力是 NIPT 的附加益处,并强烈认为这些结果应该披露。产科医生需要了解 NIPT 中的母体偶然发现,在测试前咨询中告知孕妇有接收这些结果的可能性,并在测试后咨询中提供准确和客观的信息。
通过非侵入性游离细胞 DNA 分析(IDENTIFY)偶然发现母体肿瘤的自然史研究,NCT4049604。