Objectives: To evaluate the feasibility and superiority of comparative genomic hybridization (CGH) in the genetic analysis of spontaneously aborted tissues. Methods: 38 conceptuses fromearly failed pregnancies were st...Objectives: To evaluate the feasibility and superiority of comparative genomic hybridization (CGH) in the genetic analysis of spontaneously aborted tissues. Methods: 38 conceptuses fromearly failed pregnancies were studied, of which, 27 samples were fresh and 11 were old. Each sample was divided into two parts, one part for conventional cytogenetic analysis and the other for CGH analysis. Results: All 38 spontaneously aborted tissues were analyzed successfully by the CGH approach, but only 31 samples received results from the cytogenetic karyotype analysis, while 7 other tissues failed to get data due to failure in tissue culturing. Among the specimen successfully analyzed by both approaches, 90% (28 out of 31) obtained identical results, and 14 aneuploidies were found. The only structural chromosome aberration in this series, 46, XY, del(3)- (q22- 24), was found using the CGH approach, which appeared as a normal male karyotype on the chromosomal metaphase spread. Also, two cases indicated triploidies under cytogenetic analysis but appeared to be normal on the CGH profile. In addition, among the seven samples of tissue culture failure, CGH identified three to be aneuploidies. Conclusion: The CGH analysis accurately identifies chromosomal unbalanced abnormalities related to spontaneous abortions with low failure rate.展开更多
目的探讨染色体多态性变异是否可以作为胚胎植入前非整倍体检测(preimplantation genetic testing for aneuploidies,PGT-A)的指征。方法回顾性队列研究分析于郑州大学第一附属医院生殖医学中心2012年1月1日至2021年12月31日期间接受PG...目的探讨染色体多态性变异是否可以作为胚胎植入前非整倍体检测(preimplantation genetic testing for aneuploidies,PGT-A)的指征。方法回顾性队列研究分析于郑州大学第一附属医院生殖医学中心2012年1月1日至2021年12月31日期间接受PGT-A解冻移植和体外受精-胚胎移植(in vitro fertilization and embryo transfer,IVF-ET)新鲜移植助孕患者的临床资料。根据夫妇染色体核型,PGT-A周期分为女方染色体多态性变异(女方多态组)、男方染色体多态性变异(男方多态组)及双方染色体多态性变异(双方多态组),同期染色体正常夫妇为对照(染色体正常组);IVF周期分为女方染色体多态性变异(女方多态组)、男方染色体多态性变异(男方多态组),同期染色体正常夫妇为对照(染色体正常组);比较组间实验室结果和妊娠结局。结果PGT-A周期中,各组间活检胚胎染色体非整倍体率、解冻移植临床妊娠率、早期流产率、活产率差异均无统计学意义(均P>0.05)。IVF新鲜胚胎移植中,各组间临床妊娠率、早期流产率、活产率差异均无统计学意义(均P>0.05)。IVF助孕后早期流产患者中,女方多态组、男方多态组和染色体正常组流产组织拷贝数变异(copy number variation,CNV)检测异常率分别为26.67%(4/15)、57.89%(11/19)、64.59%(363/562),差异有统计学意义(P=0.010)。结论夫妇染色体多态性变异不影响胚胎非整倍体,同时不影响PGT-A周期和IVF新鲜移植周期妊娠结局,且不增加流产组织染色体异常率。目前无明确证据支持染色体多态性变异可作为PGT-A新指征。展开更多
文摘Objectives: To evaluate the feasibility and superiority of comparative genomic hybridization (CGH) in the genetic analysis of spontaneously aborted tissues. Methods: 38 conceptuses fromearly failed pregnancies were studied, of which, 27 samples were fresh and 11 were old. Each sample was divided into two parts, one part for conventional cytogenetic analysis and the other for CGH analysis. Results: All 38 spontaneously aborted tissues were analyzed successfully by the CGH approach, but only 31 samples received results from the cytogenetic karyotype analysis, while 7 other tissues failed to get data due to failure in tissue culturing. Among the specimen successfully analyzed by both approaches, 90% (28 out of 31) obtained identical results, and 14 aneuploidies were found. The only structural chromosome aberration in this series, 46, XY, del(3)- (q22- 24), was found using the CGH approach, which appeared as a normal male karyotype on the chromosomal metaphase spread. Also, two cases indicated triploidies under cytogenetic analysis but appeared to be normal on the CGH profile. In addition, among the seven samples of tissue culture failure, CGH identified three to be aneuploidies. Conclusion: The CGH analysis accurately identifies chromosomal unbalanced abnormalities related to spontaneous abortions with low failure rate.
文摘目的探讨染色体多态性变异是否可以作为胚胎植入前非整倍体检测(preimplantation genetic testing for aneuploidies,PGT-A)的指征。方法回顾性队列研究分析于郑州大学第一附属医院生殖医学中心2012年1月1日至2021年12月31日期间接受PGT-A解冻移植和体外受精-胚胎移植(in vitro fertilization and embryo transfer,IVF-ET)新鲜移植助孕患者的临床资料。根据夫妇染色体核型,PGT-A周期分为女方染色体多态性变异(女方多态组)、男方染色体多态性变异(男方多态组)及双方染色体多态性变异(双方多态组),同期染色体正常夫妇为对照(染色体正常组);IVF周期分为女方染色体多态性变异(女方多态组)、男方染色体多态性变异(男方多态组),同期染色体正常夫妇为对照(染色体正常组);比较组间实验室结果和妊娠结局。结果PGT-A周期中,各组间活检胚胎染色体非整倍体率、解冻移植临床妊娠率、早期流产率、活产率差异均无统计学意义(均P>0.05)。IVF新鲜胚胎移植中,各组间临床妊娠率、早期流产率、活产率差异均无统计学意义(均P>0.05)。IVF助孕后早期流产患者中,女方多态组、男方多态组和染色体正常组流产组织拷贝数变异(copy number variation,CNV)检测异常率分别为26.67%(4/15)、57.89%(11/19)、64.59%(363/562),差异有统计学意义(P=0.010)。结论夫妇染色体多态性变异不影响胚胎非整倍体,同时不影响PGT-A周期和IVF新鲜移植周期妊娠结局,且不增加流产组织染色体异常率。目前无明确证据支持染色体多态性变异可作为PGT-A新指征。
