无创胚胎植入前非整倍体筛查的诊断有效性分析  

Diagnostic Efficiency of Noninvasive Preimplantation Genetic Testing for Aneuploidy

作　　者：贾磊[1] 陈静波 郭映纯 何姝婧[1] 张志强 苏文龙 宫晓 方丛[1] JIA Lei;CHEN Jing-bo;GUO Ying-chun;HE Shu-jing;ZHANG Zhi-qiang;SU Wen-long;GONG Xiao;FANG Cong(Reproductive Medicine Research Center,The Sixth Affiliated Hospital of Sun Yat-sen University,Guangzhou 510655,China;Department of Epidemiology and Biostatistics,School of Public Health,Guangdong Pharmaceutical University,Guangzhou 510006,China)

机构地区：[1]中山大学附属第六医院生殖医学研究中心,广东广州510655 [2]广东药科大学公共卫生学院流行病学与生物统计学教研室,广东广州510006

出　　处：《中山大学学报（医学科学版）》2021年第1期73-80,共8页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：国家自然科学基金(81871214,81801449);国家重点研发计划(2017YFC1001603);广东省医学科学技术研究基金(A2020226)。

摘　　要：【目的】探讨无创胚胎植入前非整倍体筛查(niPGT-A)的诊断有效性。【方法】收集并再次分析了2018年7月到2019年7月期间,在中山大学附属第六医院生殖医学中心因染色体相互易位,或罗氏易位经首次滋养层细胞(TE)活检(TE1)行植入前,遗传学检测被诊断为非整倍体或嵌合的患者捐献胚胎24枚。解冻捐赠胚胎行滋养层细胞活检(TE2)、内细胞团活检(ICM)并收集囊胚培养液/囊胚腔液(BCM/BF)通过高通量测序技术获得遗传信息。以ICM的结果为胚胎真实染色体结果,比较TE1、TE2及BCM/BF的核型一致性。【结果】TE1、TE2及BCM/BF与相应的ICM的核型一致性分别为66.7%,87.5%和79.2%(P>0.05),任意两组之间的差异没有统计学意义(P>0.05)。【结论】利用囊胚培养液/囊胚腔液中的游离DNA行无创胚胎植入前非整倍体筛查可以获得与同期活检的TE2和ICM相似的诊断有效性。【Objective】To investigate the diagnostic efficiency of noninvasive preimplantation genetic testing for aneuploidy(niPGT-A).【Methods】A total of 24 blastocysts diagnosed as aneuploid or mosaic by initial trophectoderm biopsy(TE1)preimplantation genetic testing for aneuploidy(PGT-A)were donated by 11 couples with reciprocal translocation or Robertsonian translocation.All the PGT cycles were performed at Center for Reproductive Medicine in the Sixth Affiliated Hospital of Sun Yat-sen University from July 2018 to July 2019.The 24 frozen-thawed blastocysts were reanalyzed by trophectoderm re-biopsy(TE2),inner cell mass(ICM)biopsy and collection of spent blastocyst culture medium/blastocoel fluid(BCM/BF)using Next Generation Sequencing(NGS)platform.With the corresponding ICM result as the actual chromosomal status,the karyotype concordances with corresponding ICM were compared among TE1,TE2 and BCM/BF sampling.【Results】The karyotype concordance rates of TE1,TE2 and BCM/BF with their corresponding ICM were 66.7%,87.5%and 79.2%,respectively(P>0.05).No statistically significant difference was found between any two groups(P>0.05).【Conclusions】niPGT-A by using BCM/BF could achieve similar diagnostic efficiency as TE2-biopsy PGT-A and ICM-biopsy PGT-A.

关 键 词：无创胚胎植入前非整倍体筛查 囊胚培养液/囊胚腔液 滋养层细胞活检 

分 类 号：R711.6[医药卫生—妇产科学]