Am J Obstet Gynecol. 2015 Jun;212(6):711-6. doi: 10.1016/j.ajog.2015.03.043. Epub 2015 Mar 23.
Recent advances in technology have created exciting opportunities to expand and improve genetic testing options that are available to women during pregnancy. However, the novelty and complexity of these technologies, combined with the commercial interest to implement these tests rapidly into routine clinical care, have created challenges for physicians and patients and potentially will lead to misunderstanding, misuse, and unintended consequences. The purpose of this document was to aid clinicians in their day-to-day practice of counseling patients regarding prenatal aneuploidy testing options with cell-free DNA screening, which includes how it compares to current testing methods, potential benefits and harms, and its limitations and caveats.
技术的最新进展为扩大和改善孕期女性可获得的基因检测选择创造了令人兴奋的机会。然而，这些技术的新颖性和复杂性，加上将这些检测迅速应用于常规临床护理的商业利益，给医生和患者带来了挑战，并可能导致误解、误用和意外后果。本文档的目的是帮助临床医生在日常实践中就采用游离DNA筛查进行产前非整倍体检测的选择为患者提供咨询，包括其与当前检测方法的比较、潜在益处和危害以及其局限性和注意事项。
