Lucile Packard Children's Hospital Stanford, Fetal and Pregnancy Health Program, Palo Alto, CA, USA.
Stanford University School of Medicine, Department of Genetics and Stanford Center for Biomedical Ethics, Stanford, CA, USA.
Semin Fetal Neonatal Med. 2018 Feb;23(1):1-6. doi: 10.1016/j.siny.2017.10.001. Epub 2017 Oct 13.
Prenatal diagnostic testing has recently progressed from karyotype to routinely available chromosomal microarray, and the potential for fetal whole exome sequencing, both through invasive diagnostic testing and, in some cases, non-invasive prenatal testing. These tests bring beneficence through providing a higher diagnostic yield, often with lower risks of miscarriage than previously available testing, but also raise the question of harms related to an increase in uncertain and unknown results. Some parents-to-be report a desire to learn as much information as possible prenatally, and there may be beneficence in providing them with this information. However, the potential uncertainty these tests may create may raise anxiety and may complicate pregnancy decision-making for both patients and providers. This article reviews current prenatal technologies and the growing research on the clinical and ethical aspects of uncertainty as it relates to expanding prenatal testing options.
产前诊断检测最近已经从核型分析发展到常规的染色体微阵列分析，并且有可能进行胎儿全外显子组测序，这两种方法都可以通过有创性诊断检测，以及在某些情况下，通过非侵入性产前检测来实现。这些检测通过提供更高的诊断率带来了益处，通常比以前可用的检测方法的流产风险更低，但也提出了与不确定和未知结果增加相关的危害问题。一些准父母表示希望在产前尽可能多地了解信息，而向他们提供这些信息可能是有益的。然而，这些检测可能带来的潜在不确定性可能会引起焦虑，并可能使患者和提供者在做出妊娠决策时变得复杂。本文回顾了当前的产前技术以及关于与扩大产前检测选择相关的不确定性的临床和伦理方面的不断增长的研究。
