植入前胚胎21号染色体嵌合现象主要由二倍体受孕引起  

Chromosome 21 mosaic human preimplantation embryos predominantly arise from diploid conceptions

作　　者：Katz-Jaffe M.G. Trounson A.O. Cram D.S. 张剑萍 

机构地区：[1]Colorado Center for Reproductive Medicine, 799 E. Hampden Ave, Englewood, CO 80113, United States,Dr.

出　　处：《世界核心医学期刊文摘（妇产科学分册）》2006年第1期34-34,共1页Core Journal in Obstetrics/Gynecology

摘　　要：High rates of chromosomal mosaicism in human IVF embryos question the accuracy of preimplantation genetic diagnosis, and, with the majority of embryo transfers still resulting in no pregnancy, chromosomal mosaicism is likely to be a contributing factor to human IVF failure. The aim of this study was to investigate the origin and nature of chromosome 21 (Ch21) cell division errors in human IVF embryos. Design: Perform single cell Ch21 allelic profiling on human IVF embryos. Setting: Academic research environment. Patient(s): Women of advanced maternal age (>35 yrs) (n = 65) undergoing infertility treatment; and amniocytes/chorionic cells from trisomy 21 pregnancies (n = 28). Intervention(s): Cells were analyzed by single cell allelic profiling, Main Outcome Measure(s): The origin and nature of cell division errors. Result(s): The vast majority of Ch21 mosaic embryos (～ 80% ) originated from diploid conceptions. In contrast, all fetal trisomy 21 originated from aneuploid conceptions. Increasing maternal age was significantly associated with aneuploid conceptions, meiotic cell division error, and adverse pregnancy outcome (P < .05). The mean daily FSH dose that produced embryos with normal Ch21 cell division was significantly lower than the mean daily FSH dose that produced embryos with mitotic Ch21 cell division errors (P < .01) and embryos with meiotic cell division errors (P < .05). Conclusion(s): Chromosomal mosaicism of Ch21 in human IVF embryos predominantly originate from diploid conceptions. Further understanding of chromosomal mosaicism with respect to IVF parameters, such as daily FSH dose, may eventually lead to improvements in IVF outcomes.Objective： High rates of chromosomal mosaicism in human IVF embryos question the accuracy of preimplantation genetic diagnosis, and, with the majority of embryo transfers still resulting in no pregnancy, chromosomal mosaicism is likely to be a contributing factor to human IVF failure. The aim of this study was to investigate the origin and nature of chromosome 21 （Ch21） cell division errors in human IVF embryos. Design： Perform single cell Ch21 allelic profiling on human IVF embryos. Setting： Academic research environment. Patient（s）： Women of advanced maternal age （〉 35 yrs） （n = 65） undergoing infertility treatment; and amniocytes/chorionic cells from trisomy 21 pregnancies （n = 28）. Intervention（s）： Cells were analyzed by single cell allelic profiling, Main Outcome Measure（s）： The origin and nature of cell division errors. Result（s）： The vast majority of Ch21 mosaic embryos （ - 80% ） originated from diploid conceptions. In contrast, all fetal trisomy 21 originated from aneuploid conceptions. Increasing maternal age was significantly associated with aneuploid conceptions, meiotic cell division error, and adverse pregnancy outcome （P 〈 . 05） . The mean daily FSH dose that produced embryos with normal Ch21 cell division was significantly lower than the mean daily FSH dose that produced embryos with mitotic Ch21 cell division errors （P 〈. 01） and embryos with meiotic cell division errors （P 〈 . 05） .

关 键 词：21号染色体 植入前胚胎 嵌合现象 二倍体 受孕 染色体嵌合型 胚胎遗传学诊断 21-三体 绒毛膜细胞 细胞分裂 

分 类 号：R394[医药卫生—医学遗传学] R321-33[医药卫生—基础医学]