Al Jalila Children's Specialty Hospital, Al Jaddaf, Dubai, UAE.
Departments of Pathology, Harvard Medical School and Brigham and Women's Hospital, Boston, MA, USA.
Hum Genet. 2020 Sep;139(9):1149-1159. doi: 10.1007/s00439-019-02085-7. Epub 2019 Nov 7.
Whole exome sequencing (WES) is increasingly being used in the prenatal setting. The emerging data support the clinical utility of prenatal WES based on its diagnostic yield, which can be as high as 80% for certain ultrasound findings. However, detailed practice and laboratory guidelines, addressing the indications for prenatal WES and the surrounding technical, interpretation, ethical, and counseling issues, are still lacking. Herein, we review the literature and summarize the most recent findings and applications of prenatal WES. This review offers specialists and clinical genetic laboratorians a body of evidence and expert opinions that can serve as a resource to assist in their practice. Finally, we highlight the emerging technologies that promise a future of prenatal WES without the risks associated with invasive testing.
全外显子测序（WES）在产前领域的应用日益广泛。新兴数据支持产前 WES 的临床实用性，其诊断率高达 80%，针对某些超声发现。然而，详细的实践和实验室指南，针对产前 WES 的适应症以及周围的技术、解释、伦理和咨询问题，仍然缺乏。在此，我们回顾文献，总结产前 WES 的最新发现和应用。本综述为专家和临床遗传实验室人员提供了一套证据和专家意见，可作为他们实践的参考。最后，我们强调了新兴技术的出现，承诺未来的产前 WES 将没有与侵入性检测相关的风险。
