Treff Nathan R, Marin Diego
Genomic Prediction Inc., North Brunswick, New Jersey; Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers University, New Brunswick, New Jersey.
Genomic Prediction Inc., North Brunswick, New Jersey.
Fertil Steril. 2021 Nov;116(5):1205-1211. doi: 10.1016/j.fertnstert.2021.06.027. Epub 2021 Jul 23.
Preimplantation genetic testing for aneuploidy (PGT-A) remains one of the most controversial topics in reproductive medicine. With more than 40% of in vitro fertilization cycles in the United States reportedly involving PGT, both those in favor of and those opposed to PGT-A have significant interest in the efficacy of PGT-A. Ongoing issues include what patient population, if any, benefits from PGT-A, the true frequency of chromosomal mosaicism, whether embryonic aneuploidies self-correct, and how practitioners manage embryos designated as "mosaic." This review addresses several misconceptions and misinterpretations of data surrounding the genetic analysis and prediction of mosaicism in the preimplantation embryo.
胚胎植入前非整倍体基因检测（PGT-A）仍然是生殖医学中最具争议的话题之一。据报道，在美国超过40%的体外受精周期涉及PGT，支持和反对PGT-A的人都对PGT-A的疗效非常感兴趣。目前存在的问题包括哪些患者群体（如果有的话）能从PGT-A中获益、染色体嵌合体的真实发生率、胚胎非整倍体是否会自我纠正，以及从业者如何处理被认定为“嵌合体”的胚胎。本综述探讨了围绕植入前胚胎中嵌合体的基因分析和预测数据的一些误解和错误解读。
