Victorian Clinical Genetics Service and Murdoch Children's Research Institute, Victoria, Australia.
Curr Opin Obstet Gynecol. 2013 Apr;25(2):133-7. doi: 10.1097/GCO.0b013e32835ebb67.
Chromosome microarray (CMA) analysis enables genome interrogation at a much higher resolution than is possible with conventional karyotyping. CMA is considered 'standard of care' for postnatal genetic testing, yet its introduction into the prenatal setting has been delayed, in part because of ethical concerns about possible psychosocial harm and deficits in informed consent.
The findings of several large trials have now been reported, allowing preliminary quantification of the relative benefits and harms of CMA in prenatal diagnosis. Qualitative studies have also provided insights into the patient experience particularly in cases in which results of uncertain significance are provided. In an attempt to minimize potential harms, some professional guidelines have suggested limiting access to CMA to patients with fetal abnormality on ultrasound, limiting the diagnostic power of CMA by using targeted platforms or limiting reporting.
We provide an overview of the relative benefits and harms of prenatal CMA, and critically examine the strategies proposed to minimize harms in the context of other important ethical issues such as patient autonomy, justice and equity of access. We advocate for improved patient consent, counselling and support so that patients can fully benefit from the improved diagnostic yield of CMA despite the challenges that are intrinsic to the prenatal setting.
染色体微阵列（CMA）分析能够比传统核型分析以更高的分辨率检测基因组。CMA 被认为是新生儿遗传检测的“标准护理”，但其在产前检测中的应用却被推迟，部分原因是对可能的心理社会伤害和知情同意缺陷的伦理担忧。
目前已经报告了几项大型试验的结果，从而可以初步量化 CMA 在产前诊断中的相对益处和危害。定性研究也深入了解了患者的体验，特别是在提供不确定意义的结果的情况下。为了尽量减少潜在的危害，一些专业指南建议将 CMA 的使用限于超声检查有胎儿异常的患者，通过使用靶向平台或限制报告来限制 CMA 的诊断能力。
我们概述了产前 CMA 的相对益处和危害，并在其他重要的伦理问题（如患者自主性、公平性和获得途径的公平性）的背景下，批判性地审查了为尽量减少危害而提出的策略。我们提倡改善患者的同意、咨询和支持，以便患者能够充分受益于 CMA 提高的诊断效果，尽管产前检测环境存在固有挑战。
