染色体易位携带者胚胎着床前遗传学诊断的临床分析  

Preimplantation genetic diagnosis for reciprocal and Robertsonian translocations

作　　者：黄锦[1] 廉颖[1] 陈立雪[1] 赵楠[1] 乔杰[1] 刘平[1] HUANG Jin;LIAN Ying;CHEN Lixue;ZHA O Nan;QIAO Jie;LIU Ping(Centre for Reproductive Medicine,Department of Obstetrics andGynecology,Peking University Third Hospital,Beijing 100191,China)

机构地区：[1]北京大学第三医院妇产科生殖中心

出　　处：《中国妇产科临床杂志》2018年第6期512-515,共4页Chinese Journal of Clinical Obstetrics and Gynecology

基　　金：国家十三五重点专项课题(2016YFC1000302)

摘　　要：目的分析染色体易位携带者胚胎着床前遗传学诊断的临床结果,探讨不同性别染色体易位携带者临床结果的差异。方法 2013年1月至2015年12月本中心共实施646个染色体易位的胚胎着床前遗传学诊断（PGD）周期。采用比较基因组杂交芯片技术（a CGH）或单核苷酸多态性基因芯片技术（SNP array）对囊胚的滋养层细胞进行24条染色体分析,活检后的囊胚冻存及单囊胚解冻移植。分析易位携带者的异常胚胎比例及不同性别、不同类型染色体易位携带者的PGD临床结果。结果 646个PGD周期中,相互易位携带者的异常胚胎比例（68.15%,1 027/1 507）与罗氏易位携带者（47.91%,448/935）比较,差异有统计学意义（P 〈0.05）。相互易位组PGD周期取消移植率（36.23%,150/414）也显著高于罗氏易位组（16.81%,39/232,P 〈0.05）;但是,相互易位携带者的妊娠率（69.55%,153/220）、活产率（64.41%,76/118）与罗氏易位携带者的妊娠率（72.33%,115/159）、活产率（64.65%,64/99）比较,差异均无统计学意义（P〉0.05）。相互易位组中,男性携带者与女性携带者对异常胚胎率、取消移植率、妊娠率和活产率均无影响（66.91%,69.65%;34.40%,38.27%;69.05%,70.21%;62.50%,67.39%;P〉 0.05）。罗氏易位组中,男性携带者与女性携带者对取消移植率、妊娠率和活产率均无影响（13.48%,21.98%,75.00%,67.80%;66.15%,61.76%;P〉 0.05）;但是,男性罗氏易位组的PGD异常胚胎数比例显著低于女性罗氏易位组（40.55%,58.44%;P 〈0.05）。结论与罗氏易位相比,PGD中相互易位的可利用胚胎显著降低;但是在移植周期中,二者的妊娠结局无显著差异。不同性别易位携带者对PGD的妊娠结局亦无影响。Objective To analysis the clinical results of the preimplantation genetic diagnosis（PGD） in the carriers of chromosomal translocation. To explore the differences in clinical between the male and female translocation carriers. Methods 646 translocations PGD cycles were performed by using comparative genomic hybridization（aCGH） or single nucleotide polymorphisms（SNP array） to analyze 24 chromosomes of blastocyst trophoblast cells in our center from January, 2013 to December, 2015. After biopsy, blastocyst cryopreservation and single blastocyst were thawing transplantation. The abnormal embryo proportion of translocation carriers and PGD results of translocation carriers of different genders and different types of chromosomes were analyzed. Results Abnormal blastocysts rate and no embryo to transfer rate of reciprocal translocations（68.15%, 1.027/1 507）was significantly higher than that of Robertsonian translocations（47.91%, 48/935） and the difference was statistically significant（P〈0.05）. PGD cycle cancellation rate（36.23%, 150/414） was also significantly higher than that of robertsonian translocations（16.81%, 39/232, P〈0.05）. However, there were no difference of the pregnancy rate and the live birth rate between reciprocal and Robertsonian translocations（69.55% vs 72.33%, 64.41% vs 64.65%, P〈0.05）.There were no difference of the abnormal blastocyst rate, no embryo to transfer rate, pregnancy rate and the live birth rate between the male and female reciprocal translocations（66.91% vs 69.65%, 34.40% vs 38.27%, 69.05% vs 70.21%, 62.50% vs 67.39%, P〈0.05）.There were no difference of no embryo to transfer rate, pregnancy rate and the live birth rate between the male and female Robertsonian translocations（13.48% vs 21.98%, 75.00% vs 67.80%, 66.15% vs 61.76%, P〈0.05）. However, the abnormal blastocyst rate of male Robertsonian translocation was significantly lower than that of female Robertsonian translocations（40.55% vs 58.44%, P〈0.05）. Conclusions Compared with

关 键 词：相互易位 罗氏易位 着床前遗传学诊断 妊娠率 活产率 

分 类 号：R714.8[医药卫生—妇产科学]