Zouves Foundation for Reproductive Medicine, Foster City, California; Zouves Fertility Center, Foster City, California.
Zouves Foundation for Reproductive Medicine, Foster City, California.
Fertil Steril. 2021 May;115(5):1212-1224. doi: 10.1016/j.fertnstert.2020.11.041. Epub 2021 Mar 6.
To study how the attributes of mosaicism identified during preimplantation genetic testing for aneuploidy relate to clinical outcomes, in order to formulate a ranking system of mosaic embryos for intrauterine transfer.
Compiled analysis.
Multi-center.
PATIENT(S): A total of 5,561 euploid blastocysts and 1,000 mosaic blastocysts used in clinical transfers in patients undergoing fertility treatment.
INTERVENTION(S): None.
MAIN OUTCOME MEASURE(S): Implantation (gestational sac), ongoing pregnancy, birth, and spontaneous abortion (miscarriage before 20 weeks of gestation).
RESULT(S): The euploid group had significantly more favorable rates of implantation and ongoing pregnancy/birth (OP/B) compared with the combined mosaic group or the mosaic group affecting only whole chromosomes (implantation: 57.2% vs. 46.5% vs. 41.8%; OP/B: 52.3% vs. 37.0% vs. 31.3%), as well as lower likelihood of spontaneous abortion (8.6% vs. 20.4% vs. 25%). Whole-chromosome mosaic embryos with level (percent aneuploid cells) <50% had significantly more favorable outcomes than the ≥50% group (implantation: 44.5% vs. 30.4%; OP/B: 36.1% vs. 19.3%). Mosaic type (nature of the aneuploidy implicated in mosaicism) affected outcomes, with a significant correlation between number of affected chromosomes and unfavorable outcomes. This ranged from mosaicism involving segmental abnormalities to complex aneuploidies affecting three or more chromosomes (implantation: 51.6% vs. 30.4%; OP/B: 43.1% vs. 20.8%). Combining mosaic level, type, and embryo morphology revealed the order of subcategories regarding likelihood of positive outcome.
CONCLUSION(S): This compiled analysis revealed traits of mosaicism identified with preimplantation genetic testing for aneuploidy that affected outcomes in a statistically significant manner, enabling the formulation of an evidence-based prioritization scheme for mosaic embryos in the clinic.
研究胚胎植入前遗传学检测（PGT）中鉴定的嵌合体属性与临床结局的关系，以便制定宫内转移的嵌合胚胎分级系统。
编译分析。
多中心。
共 5561 个整倍体囊胚和 1000 个嵌合体囊胚，用于接受生育治疗的患者的临床转移。
无。
种植（囊胚）、持续妊娠、活产和自然流产（妊娠 20 周前流产）。
整倍体组的种植率和持续妊娠/活产率（OP/B）明显高于嵌合体组或仅影响整条染色体的嵌合体组（种植率：57.2%比 46.5%比 41.8%；OP/B：52.3%比 37.0%比 31.3%），自然流产的可能性也较低（8.6%比 20.4%比 25%）。水平（嵌合体中异常细胞的百分比）<50%的整条染色体嵌合体胚胎的结局明显优于≥50%的组（种植率：44.5%比 30.4%；OP/B：36.1%比 19.3%）。嵌合体类型（嵌合体中涉及的非整倍体性质）也影响结局，涉及染色体数目的增加与不良结局呈显著相关。这从涉及节段性异常的嵌合体到影响三条或更多染色体的复杂非整倍体（种植率：51.6%比 30.4%；OP/B：43.1%比 20.8%）不等。将嵌合体水平、类型和胚胎形态学相结合，揭示了与阳性结局相关的亚类的排序。
该编译分析揭示了胚胎植入前遗传学检测中鉴定的嵌合体特征，这些特征以统计学显著的方式影响了结局，从而为临床中嵌合胚胎的制定了基于证据的优先排序方案。
