嵌合型胚胎移植妊娠结局的影响因素分析  

Analysis of factors related to pregnancy outcome after mosaic embryo transfer

作　　者：金晨曦 于文澔 张倩[1] 李敬[1] 李鸿昌 颜军昊[1] Jin Chenxi;Yu Wenhao;Zhang Qian;Li Jing;Li Hongchang;Yan Junhao(Center for Reproductive Medicine,Cheeloo College of Medicine,Shandong Provincial Clinical Medicine Research Center for Reproductive Health,National Research Center for Assisted Reproductive Technology and Reproductive Genetics,Shandong University,Jinan 250021,China)

机构地区：[1]山东大学生殖医学研究中心,山东省生殖健康临床医学研究中心,国家辅助生殖与优生工程技术研究中心,济南250021

出　　处：《中华生殖与避孕杂志》2023年第5期440-447,共8页Chinese Journal of Reproduction and Contraception

基　　金：国家重点研发计划(2021YFC2700604);国家自然科学基金面上项目(82171648);山东省重点研发计划(2021LCZX02)。

摘　　要：目的探讨基于二代测序(next-generation sequencing,NGS)的胚胎植入前遗传学检测(preimplantation genetic testing,PGT)后嵌合型胚胎移植的妊娠结局,及不同嵌合比例、类型对嵌合型胚胎移植结局的影响。方法回顾性队列研究分析2018年1月至2021年12月期间于山东大学生殖医学研究中心接受PGT助孕患者的临床资料,共纳入308个嵌合型胚胎移植周期(记为嵌合型组)和904个整倍体胚胎移植周期(记为整倍体组)。比较嵌合型组和整倍体组的妊娠结局,包括生化妊娠率、临床妊娠率、持续妊娠率、早期流产率、活产率和妊娠并发症发生率。根据嵌合比例将嵌合型组分为低比例嵌合亚组、高比例嵌合亚组,根据嵌合类型将嵌合型组分为片段缺失/重复嵌合亚组、染色体单体/三体嵌合亚组、复杂嵌合亚组,分析不同嵌合比例、类型对嵌合型胚胎移植结局的影响。结果嵌合型组的持续妊娠率[49.35%(152/308)]及活产率[48.38%(149/308)]均较整倍体组明显降低[58.19%(526/904),P=0.020,OR=0.924;55.75%(504/904),P=0.031,OR=0.930],但两组间妊娠并发症的发生风险差异无统计学意义(P>0.05)。高比例嵌合亚组的活产率[35.00%(14/40)]较低比例嵌合亚组显著下降[50.37%(135/268),P=0.028,OR=0.840]。染色体单体/三体嵌合亚组的生化妊娠率[58.49%(62/106)]、临床妊娠率[49.06%(52/106)]、持续妊娠率[43.40%(46/106)]及活产率[43.40%(46/106)]与整倍体组[70.91%(641/904),P=0.020,OR=0.891;64.82%(586/904),P=0.003,OR=0.864;58.19%(526/904),P=0.003,OR=0.864;55.75%(504/904),P=0.008,OR=0.868]比较,差异均有统计学意义。片段缺失嵌合胚胎的生化妊娠率[64.47%(49/76)]、临床妊娠率[57.89%(44/76)]、持续妊娠率[47.37%(36/76)]及活产率[46.05%(35/76)]均较片段重复嵌合胚胎[84.13%(53/63),P=0.002,OR=0.793;77.78%(49/63),P=0.006,OR=0.814;68.25%(43/69),P=0.017,OR=0.829;65.08%(41/63),P=0.042,OR=0.850]显著降低。结论部分嵌合型胚胎移植后仍�Objective To investigate the pregnancy outcome of mosaic embryo transfer in next-generation sequencing(NGS)based-preimplantation genetic testing(PGT),and the effect of different mosaic ratios and types on the pregnancy outcome.Methods This was a retrospective,single-center,cohort study of 308 mosaic embryo transfer cycles(named mosaic group)and 904 euploid embryo transfer cycles(named euploid group)from January 2018 to December 2021 at Center for Reproductive Medicine,Cheeloo College of Medicine.Pregnancy outcomes,including biochemical pregnancy,clinical pregnancy,ongoing pregnancy,early miscarriage,live birth and pregnancy complication rate,were compared between the mosaic and euploid groups.The mosaic group was further divided into low-and high-level mosaicism subgroups according to mosaic ratio,and fragmental deletion/duplication,chromosomal monosomy/trisomy and complex mosaicism subgroups according to the chimerism type,in order to analyze the effects of different mosaic ratios and types on the transfer outcome of mosaic embryos.Results Compared with euploid group,the rates of ongoing pregnancy[49.35%(152/308)vs.58.19%(526/904),P=0.020,OR=0.924]and live birth[48.38%(149/308)vs.55.75%(504/904),P=0.031,OR=0.930]were significantly lower in mosaic group,but there was no significant difference in the risk of pregnancy complications between the two groups(P>0.05).The high-level mosaic subgroup had a significantly lower live birth rate[35.00%(14/40)]compared with low-level mosaic subgroup[50.37%(135/268),P=0.028,OR=0.840].The biochemical pregnancy rate[58.49%(62/106)vs.70.91%(641/904),P=0.020,OR=0.891],the clinical pregnancy rate[49.06%(52/106)vs.64.82%(586/904),P=0.003,OR=0.864],the ongoing pregnancy rate[43.40%(46/106)vs.58.19%(526/904),P=0.003,OR=0.864]and the live birth rate[43.40%(46/106)vs.55.75%(504/904),P=0.008,OR=0.868]of chromosomal monosomy/trisomy mosaic subgroup were significantly lower than those of euploid group.The biochemical pregnancy rate[64.47%(49/76)vs.84.13%(53/63),P=0.002,OR=0.793],the clinica

关 键 词：妊娠结局 胚胎植入前遗传学检测 第二代测序 嵌合型胚胎 嵌合比例 嵌合类型 

分 类 号：R714.8[医药卫生—妇产科学]