Farrell Ruth M, Agatisa Patricia K, Nutter Benjamin
Department of Bioethics, Cleveland Clinic, Cleveland, OH, USA; Department of Obstetrics & Gynecology, Cleveland Clinic, Cleveland, OH, USA; Department of Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
Birth. 2014 Sep;41(3):276-82. doi: 10.1111/birt.12113. Epub 2014 May 14.
Noninvasive prenatal testing (NIPT) will change the delivery of prenatal care for all women, including those considered low risk for fetal chromosomal abnormalities. This study investigated pregnant women's attitudes, informational needs, and decision-making preferences with respect to current and future applications of NIPT.
A survey instrument was used to identify aspects of the decision-making process for NIPT among low-risk and high-risk populations.
Both low-risk and high-risk women (n = 334) expressed interest in incorporating NIPT as a screening test into their prenatal care. Information specific to NIPT's detection rate (86%), indications (77%), and performance in comparison with conventional screens and diagnostic tests (63%) were identified as lead factors when considering its use. The future availability of NIPT as a diagnostic test increased women's willingness to undergo testing for fetal aneuploidy, cancer susceptibility, and childhood-onset and adult-onset diseases. Despite its noninvasive aspects, participants expressed the need for a formal informed consent process (71%) to take place before testing.
This study demonstrates that NIPT will introduce new challenges for pregnant women and their health care practitioners who will be charged with supporting informed decision making about its use. It is critical that obstetric professionals are prepared to facilitate a patient-centered decision-making process as its clinical application rapidly changes.
无创产前检测（NIPT）将改变所有孕妇的产前护理方式，包括那些被认为胎儿染色体异常风险较低的孕妇。本研究调查了孕妇对NIPT当前及未来应用的态度、信息需求和决策偏好。
使用一种调查工具来确定低风险和高风险人群中NIPT决策过程的各个方面。
低风险和高风险女性（n = 334）均表示有兴趣将NIPT作为一种筛查测试纳入其产前护理。在考虑使用NIPT时，其检测率（86%）、适应症（77%）以及与传统筛查和诊断测试相比的性能（63%）等特定信息被确定为主要因素。NIPT作为一种诊断测试在未来的可获得性增加了女性接受胎儿非整倍体、癌症易感性以及儿童期和成人期疾病检测的意愿。尽管NIPT具有非侵入性，但参与者表示在检测前需要进行正式的知情同意程序（71%）。
本研究表明，NIPT将给孕妇及其医疗保健从业者带来新的挑战，他们将负责支持关于其使用的知情决策。随着NIPT临床应用的迅速变化，产科专业人员做好准备以促进以患者为中心的决策过程至关重要。
