期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

对曾育21三体综合征患儿者行胚胎种植前遗传学诊断获妊娠1例 被引量：1

Normal pregnancy in a woman having had a child with trisomy 21syndrome before:application of preimplantation genetic diagnosis
暂未订购
导出
摘要 目的在体外受精-胚胎移植过程中,对高危夫妇进行胚胎种植前遗传学诊断以避免21三体综合征患儿的出生.方法常规激素替代治疗,对患者夫妇行胞母细胞质内单精子注射(ICSI),正常受精培养到第3天,对6～10细胞期胚胎活检1个细胞,利用荧光原位杂交技术(FISH)进行胚胎种植前遗传学诊断(PGD),挑选染色体数目正常的胚胎移植入患者子宫.结果共对8个胚胎进行PGD,7个有诊断结果者中6个为正常胚胎、1个为21三体胚胎.挑选3个胚胎移植,获得妊娠并产下一健康男婴.结论应用FISH对染色体数目异常的遗传疾病,如21三体综合征,进行胚胎种植前遗传学诊断是切实可行的. Objective To studythevalueof preimplantationgeneticdiagnosis(PGD)beforepregnancyfor coupleswho are exposedto highriskof trisomy21syndromein thierprogeniesto obtainbirthof healthychildby in vitro fertilization procedures.Methods Conventionalhormonereplacementtreatmentwithintracytoplasmicsperminjection(ISCI)was administeredfor ovumfertilization.Oneor two cells(blastomeres)wereaspiratedfromthepreimplantationembryothathad grownto6to10cells(day3postfertilization)for PGDwithfluorescencein situ hybridization(FISH),and3embryoswith normalchromosomeweretransferredintothe uterus.Results PGDwas carriedout in a totalof8embryoswithvalid diagnosesin7,of which6wereidentifiedas normalembryosand1hadtrisomy21syndrome.Pregnancywasobtainedthat resultedinthebirthof a healthybaby.Conclusion Detectionof chromosomalabnormalitiessuchas trisomy21syndromeis feasibleforPGDwithFISH.
作者 罗琛 邢福祺 罗深秋
机构地区 第一军医大学南方医院生殖中心 第一军医大学细胞生物学与医学遗传学教研室
出处 《第一军医大学学报》 CSCD 北大核心 2002年第3期269-271,共3页 Journal of First Military Medical University
关键词 21三体综合征 胚胎种植前遗传学诊断 荧光原位杂交技术 儿童 PGD trisomy21syndrome preimplantationgeneticdiagnosis fluorescencein situ hybridization
分类号 R394.33 [医药卫生—医学遗传学]
  • 相关文献

参考文献3

二级参考文献4

  • 1Xia P，Human Reprod，1997年，12卷，1750页
  • 2Chang YS, Kim SH, Moon SH et al. Current status of assisted reproductive technology in Asia and Oceania.J Obstet Gynael Res, 1996:22(5) :409.
  • 3Society for Assisted Reproductive Technology and the American Society for Reproductive Medicine. Assisted reproductive technology in the United States and Canada: 1994 results generated from the American Society for Reproductive Medicine/Society for Assisted reproductive technology Registry Fertil Steril. 1996:66:697.
  • 4Society for Assisted Reproductive Technology and the American Society for Reproductive Medicine. Assisted reproductive technology in the United States and Canada: 1995 results generated from the American Society for Reproductiv Medicine/Society for Assisted reproductive technology Registry, Fertil Steril, 1998:69:389.

共引文献29

同被引文献13

  • 1Hewitson L, Dominko T, Takahashy D, et al. Unique checkpoints during the first cell cycle of fertilisation after intracytoplasmic sperm injection in rhesus monkeys[J]. Nature Med, 1999, 5(4):431-3.
  • 2Silva CP, Kommineni K, Oldenbourg R, et al. The first polar body does not predict accurately the location of the metaphase Ⅱ meiotic spindle in mammalian oocytes[J ]. Fertil Steril, 1999, 71(4): 719-21.
  • 3Hardarson Th, Lundin K, Hamberger L. The position of the metaphase Ⅱ spindle cannot be predicted by the location of the first polar body in the human oocyte[J]. Hum Reprod, 2000, 15(6): 1372-6.
  • 4Liu L, Trimarchi JR, Oldenbourg R, et al. Increased birefringence in the meiotic spindle provides a new marker for the onset of activation in living oocytes[ J]. Biol Reprod, 2000, 63(1): 251-8.
  • 5Wang WH, Meng L, Hackett RJ, et al. Limited recovery of meiotic spindles in living human oocytes after cooling-rewarming observed using polarized light microscopy[J]. Hum Reprod, 2001, 16(11):2374-8.
  • 6Maria TZ, Ryszard B, Robert F, et al. Effects offchilling to 0 ℃ on the morphology of meiotic spindles in human metaphase Ⅱ oocytes[J]. Fertil Steril, 2001, 75(4): 769-77.
  • 7Boiso I, Marti M, Santalo J, et al. A confocal microscopy analysis of the spindle and chromosome configurations of human oocytes cryopreserved at the germinal vesicle and metaphase Ⅱ stage [J]. Hum Reprod, 2002, 17(7): 1885-91.
  • 8Oldenbourg R. Polarized light microscopy of spindles [J ]. Methods Cell Biol, 1999, 61: 175-6.
  • 9Wang WH, Meng L, Hackett RJ, et al. Developmental ability of human oocytes with or without birefringent spindles imaged by Polscope before insemination[J]. Hum Reprod, 2001, 16(7): 1464-8.
  • 10Wang WH, Meng L, Hackett RJ, et al. Rigorous thermal control during intracytoplasmic sperm injectionstabilizes the meiotic spindle and improves fertilization and pregnancy rates [J]. Fertil Steril,2002, 77(6): 1274-7.

引证文献1

二级引证文献5

第一军医大学学报
2002年 第3期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部