Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Fertil Steril. 2021 Nov;116(5):1203-1204. doi: 10.1016/j.fertnstert.2021.07.1197.
This month's Views and Reviews focuses on different aspects of the diagnosis of mosaicism. The first piece was written by Treff and Marin, who discuss the methodologic challenges of preimplantation genetic testing for aneuploidies and how the diagnosis of "mosaic" has led to a significant reduction in the accuracy of such testing. The second article by Viotti et al. provides an excellent overview of outcome data from >1,000 mosaic embryo transfers. The investigators make a strong case for three categorizations of embryos: euploid, aneuploid, and mosaic, and that use of mosaic embryos will prevent the discard of embryos that may lead to live birth. The final piece in this series was written by Besser et al., who discussed the various society recommendations for genetic counseling and prenatal diagnostic testing after mosaic embryo transfer and question whether these are truly data-driven. This collection of pieces will give the reader a deeper understanding of the controversy and management of mosaic embryo transfer.
本月的观点与评论聚焦于嵌合体诊断的不同方面。第一篇文章由 Treff 和 Marin 撰写，他们讨论了胚胎植入前遗传学检测非整倍体的方法学挑战，以及“嵌合体”的诊断如何导致此类检测的准确性显著降低。第二篇文章由 Viotti 等人撰写，提供了超过 1000 例嵌合体胚胎移植的结果数据的精彩概述。研究人员提出了胚胎的三种分类方法：整倍体、非整倍体和嵌合体，使用嵌合体胚胎可以防止丢弃可能导致活产的胚胎。本系列的最后一篇文章由 Besser 等人撰写，他们讨论了在嵌合体胚胎移植后遗传咨询和产前诊断检测的各种社会建议，并质疑这些建议是否真正基于数据。这一系列文章将使读者更深入地了解嵌合体胚胎移植的争议和管理。
