Objective To investigate the feasibility of vitrification of blastocysts following blastomere biopsy. Methods Among patients undergoing pre-implantation genetic diagnosis （PGD）, artificial shrinkage of the blastocoe...Objective To investigate the feasibility of vitrification of blastocysts following blastomere biopsy. Methods Among patients undergoing pre-implantation genetic diagnosis （PGD）, artificial shrinkage of the blastocoelic cavity and subsequent vitrification of applicable surplus blastocysts after day-3 blastomere biopsy were performed. According to patient requirements, thawed blastocysts were transferred into patients due to pregnancy failure after fresh embryo transfer, ectopic pregnancy, ovarian hyperstimulation. Results Twenty-four PGD cycles were carried out. According to genetic diagnosis and the development of blastocysts, transfer was cancelled in 7 cycles due to absence of applicable embryos or ovarian hyperstimulation. In the remaining 17 cycles, 26 blastocysts were thawed and transferred, which resulted in 13 implanted （50.0%）. Clinical pregnancies were observed in 11 patients （64.71%）. Following transfer, 30 applicable blastocysts in 10 cycles were cryopreserved. Six patients received transfer of thawed blastocysts. All 8 thawed embryos survived and were transferred, and singleton pregnancies occurred in 5 patients. Two women delivered healthy infants and 3 pregnancies are ongoing. Conclusion Vitrification with artificial shrinkage is effective for preserving blastocysts following blastomere biopsy.展开更多
目的:探讨最适的β地中海贫血疾病HBB基因单细胞全基因组扩增方法。方法:60份β地中海贫血成纤维细胞(HBB基因变异位点CD17和IVSⅡ654)和48份废弃胚胎单个卵裂球进行多次退火环状循环扩增法(MALBAC)和多重置换扩增法(MDA)扩增及高通量测...目的:探讨最适的β地中海贫血疾病HBB基因单细胞全基因组扩增方法。方法:60份β地中海贫血成纤维细胞(HBB基因变异位点CD17和IVSⅡ654)和48份废弃胚胎单个卵裂球进行多次退火环状循环扩增法(MALBAC)和多重置换扩增法(MDA)扩增及高通量测序,比较位点检测率、等位基因脱扣(ADO)率及扩增均一度等。结果:β地中海贫血疾病HBB基因MALBAC技术位点检测率(100%)高于MDA技术(96.3%);CD17和IVSⅡ654的ADO率MALBAC技术为9.09%和0.00%,MDA技术为23.08%和19.23%;对编码人β-珠蛋白的HBB基因附近60个SNP位点检测显示MALBAC技术ADO率为12.04%,MDA技术为21.25%;MALBAC技术拷贝数变异检测变异系数为0.13,MDA技术为0.15。结论:β地中海贫血单细胞诊断MALBAC法优于M D A法。展开更多
基金funded by Guangxi Zhuang Autonomous Region Natural Science Foundation of China (Grant No. 0897007, 0832183, 0542058)Health Department of Guangxi Zhuang Autonomous Region (Grant No. 200947, Z2007013)
文摘Objective To investigate the feasibility of vitrification of blastocysts following blastomere biopsy. Methods Among patients undergoing pre-implantation genetic diagnosis （PGD）, artificial shrinkage of the blastocoelic cavity and subsequent vitrification of applicable surplus blastocysts after day-3 blastomere biopsy were performed. According to patient requirements, thawed blastocysts were transferred into patients due to pregnancy failure after fresh embryo transfer, ectopic pregnancy, ovarian hyperstimulation. Results Twenty-four PGD cycles were carried out. According to genetic diagnosis and the development of blastocysts, transfer was cancelled in 7 cycles due to absence of applicable embryos or ovarian hyperstimulation. In the remaining 17 cycles, 26 blastocysts were thawed and transferred, which resulted in 13 implanted （50.0%）. Clinical pregnancies were observed in 11 patients （64.71%）. Following transfer, 30 applicable blastocysts in 10 cycles were cryopreserved. Six patients received transfer of thawed blastocysts. All 8 thawed embryos survived and were transferred, and singleton pregnancies occurred in 5 patients. Two women delivered healthy infants and 3 pregnancies are ongoing. Conclusion Vitrification with artificial shrinkage is effective for preserving blastocysts following blastomere biopsy.
文摘目的:探讨最适的β地中海贫血疾病HBB基因单细胞全基因组扩增方法。方法:60份β地中海贫血成纤维细胞(HBB基因变异位点CD17和IVSⅡ654)和48份废弃胚胎单个卵裂球进行多次退火环状循环扩增法(MALBAC)和多重置换扩增法(MDA)扩增及高通量测序,比较位点检测率、等位基因脱扣(ADO)率及扩增均一度等。结果:β地中海贫血疾病HBB基因MALBAC技术位点检测率(100%)高于MDA技术(96.3%);CD17和IVSⅡ654的ADO率MALBAC技术为9.09%和0.00%,MDA技术为23.08%和19.23%;对编码人β-珠蛋白的HBB基因附近60个SNP位点检测显示MALBAC技术ADO率为12.04%,MDA技术为21.25%;MALBAC技术拷贝数变异检测变异系数为0.13,MDA技术为0.15。结论:β地中海贫血单细胞诊断MALBAC法优于M D A法。
