[1]黄霈,陈美佳*,吕福通,等.早期自然流产胚胎绒毛染色体多重连接依赖式 探针扩增技术分析[J].中国计划生育和妇产科,2020,(5):39-42.
　HUANG Pei,CHEN Meijia*,LV Futong,et al.Embryonic villi chromosome analysis of early spontaneous abortion by multiplex ligationdependent probe amplification[J].Chinese Journal of Family Planning & Gynecotokology,2020,(5):39-42.
点击复制

早期自然流产胚胎绒毛染色体多重连接依赖式 探针扩增技术分析
分享到：

《中国计划生育和妇产科》[ISSN:1674-4020/CN:51-1708/R]

卷:
期数:
2020年5期
页码:
39-42
栏目:
不良妊娠诊治专栏
出版日期:
2020-05-25

文章信息/Info

Title:
Embryonic villi chromosome analysis of early spontaneous abortion by multiplex ligationdependent probe amplification
作者:
黄霈; 陈美佳*; 吕福通; 赵绮; 韦雅淑
广西壮族自治区生殖医院检验科
Author(s):
HUANG Pei; CHEN Meijia*; LV Futong; ZHAO Qi; WEI Yashu
Laboratory，Reproductive Hospital of Guangxi Zhuang Autonomous Region,Nanning Guangxi 530021,P.R.China
关键词:
自然流产; 绒毛; 染色体畸变; 多重连接依赖式探针扩增技术
Keywords:
spontaneous abortion; villus; chromosome aberrations;  multiplex ligationdependent probe amplification
分类号:
R 71421
摘要:
目的分析早期自然流产绒毛组织染色体异常的分布，探讨染色体异常发生率与胎儿性别、孕妇年龄及辅助生殖技术的相关性，为临床遗传咨询和生育指导提供实验室依据。方法应用多重连接依赖式探针扩增技术（multiplex ligationdependent probe amplification,MLPA）对2019年6～12月广西壮族自治区生殖医院的流产绒毛标本进行染色体检测，并收集患者的相关病历资料进行遗传学分析。结果75例绒毛标本中共检出染色体异常44例（58.7 %），其中三体型最为常见（909 %，40/44）。男胎染色体异常率（714 %）明显高于女胎（475 %）（P＜005）；孕妇年龄≥35岁组的胚胎染色体异常发生率明显高于年龄＜35岁组（P＜005）；自然受孕与辅助生殖受孕后自然流产的胚胎染色体异常率比较,差异无统计学意义（P＞005），但卵胞浆内单精子显微注射组高于体外受精组（P＜005）。讨论 胚胎染色体异常可能是早期自然流产的重要原因。胚胎性别、孕妇年龄以及不同方式辅助生殖技术均与绒毛染色体异常的发生有一定关系。用MLPA法可快速、准确、经济地分析流产胚胎染色体情况，对于指导下一次妊娠及优生优育有重要意义。
Abstract:
ObjectiveTo provide laboratory basis for genetic counseling and reproductive guidance through analyzing the distribution of chromosomal abnormalities in villi of early spontaneous abortion and investigating the relationship between the incidence of chromosomal abnormalities and the sex of fetal, the age of pregnant woman, assisted reproductive technology. MethodsThe chromosomes of abortion villi specimens from June 2019 to December 2019 in Reproductive Hospital of Guangxi Zhuang Autonomous Region were detected by multiplex ligationdependent probe amplification(MLPA). Relevant medical records of patients were collected for genetic analysis. ResultsA total of 44 cases (587 %) of chromosomal abnormalities were detected in the specimens of 75 abortion villi, of which trisomy was the most common (900 %，40/44).Chromosome abnormality rate in male fetus (714 %) was significantly higher than that in female fetus (475 %)（P＜005）；the proportion of chromosome abnormalities in villus specimens obtained from women over 35 years was significantly higher than that of women under 35 years (P<005); there was no significant difference between natural and assisted conception in chromosome abnormality rate of the aborted embryos（P＞005）, while the proportion of chromosome abnormalities in ICSI group was higher than that in IVF group（P＜005）. ConclusionEmbryonic chromosomal abnormality maybe an important cause of early spontaneous abortion. There is certain relationship between the occurrence of chromosome abnormality and embryonic gender, as well as the maternal age and different assisted reproductive technology. MLPA method can be used to analyze the chromosome of aborted embryos quickly, accurately and economically，has important meaning for guiding the next pregnancy and eugenics.

参考文献/References:

［1］张晓薇,朱壮彦.妇产科学 ［M］.北京:人民军医出版社,2013:9799. ［2］Petracchi F,Colaci DS, Lgarzabal L, et al. Cytogenetic analysis of first trimester pregnancy loss ［J］.Int J GynaecolObstet,2009,104 (3):243244. ［3］DiegoAlvarez D,GarciaHoyos M,Trujillo MJ,et al.Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spnntaneous miscarriages ［J］.Hum Reprod,2005,20 (5):12351243. ［4］Stephenson M D,Awartani KA,Robinson WP. Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a casecontrol study ［J］.Hum Reprod,2002,17 (2):446451. ［5］Saxena D,Agarwal M,Gupta D,et al. Utility and limitations of multiplex ligationdependent probe amplification technique in the detecion of cytogenetic abnormalities in products of conception ［J］.J Postgrad Med,2016,62 (4):239241. ［6］Shen J,Wu W,Gao C,et al.Chromosomal copy number analysis on chofionic villus samples from early spontaneous miscarriages by high throughput genetic technology ［J］.Mol Cytogenet,2016,9（1）:7． ［7］Nicolaidis P, Petersen MB. Origin and mechanisms of nondisjunction in human autosomal trisomies ［J］. Human Reproduction,1998,13 (2):313319. ［8］易翠兴，潘敏，胡舜妍，等．广州地区97例自然流产绒毛细胞培养及核型分析 ［J］.中国优生与遗传杂志,2007，15(9):4142. ［9］潘观玉.早期妊娠自然流产的绒毛细胞培养及染色体核型分析156例［J］.广州医科大学学报,2015，43(3):4144. ［10］Boklage C E.The epigenetic environment:econdary sex ratio depends on differential survival in embryogenesis ［J］.Human Reproduction,2005,3 (20):583587. ［11］Lebedev I.Molecular cytogenetics of recurrent missed abortions ［J］.Indian J Med Res,2006,124 (1):910. ［12］刘丽娟.自然流产性别特异性胚胎淘汰及其发生机制的初步研究 ［D］.南方医科大学,2010. ［13］Vialard F,Boitrelle F,MolinaGomes D,et al.Predisposition to aneuploidy in the oocyte ［J］.Cytogenetic and genome research,2011,133 (24):127135. ［14］Homer H A.Mad2 and spindle assembly checkpoint function during meiosis I in mammalian oocytes ［J］.Histol Histopathol,2006,21(8):873886. ［15］Kushnir VA,Barad DH,Gleicher N.Association of abnormal ovarian reserve parameters with a higher incidence of aneuploid blastocysts ［J］.Obstet Gynecol,2013,121 (6):1361. ［16］Schaaf CP,Zschocke J,Potocki L.Human genetics: from molecules to medicine ［M］.Philadelphia:Lippincott Williams&Wilkins,2011:352353． ［17］Society for Assisted Reproductive Technology，American Society for Reproductive Medicine.Assisted reproductive technology in the United States: 2001 results generated from the American society for reproductive medicine/society for assisted reproductive technology registry ［J］.Ferti Steril,2007,87 (6):12531266. ［18］朱亮,全松,邢福祺,等.体外受精胚胎移植后单胎妊娠自然流产相关因素分析 ［J］.广东医学,2007,28(10):15581560. ［19］李亚丽,余小平,王方娜,等.复发性流产患者流产组织物的遗传学分析 ［J］.中国妇幼保健,2016,31 (3):536538． ［20］Lathir B,Milkia A.Rate of aneuploidy in miscarriages following in vitro fertilization and intracytoplasmic sperm injection ［J］.Ferti Steril,2004,81 (5):12701272. ［21］ ASRM. Evaluation and treatment of recurrent pregnancy loss:a committee opinion ［C］.Fertil Steril,2012,98（5）:11031111. ［22］张月萍,庄依亮.2071例自然流产患者染色体核型分析及临床意义 ［J］.中华妇产科杂志,2000,35 (3):178．

相似文献/References:

[1]侯兴华,臧玉芹,张艳,等.甲胎蛋白及增殖细胞核抗原在自然流产中的表达及意义[J].中国计划生育和妇产科,2010,(03):0.
　HOU Xing-hua,ZANG Yu-qin,ZHANG Yan,et al.[J].Chinese Journal of Family Planning & Gynecotokology,2010,(5):0.
[2]崔淑娟,马艳芬.妊娠期心理压力与自然流产的关系[J].中国计划生育和妇产科,2015,(03):0.
　CUI Shu-juan,MA Yan-fen,[J].Chinese Journal of Family Planning & Gynecotokology,2015,(5):0.
[3]王甲甲,王智斌,黄文芳,等.TORCH病原体感染与自然流产的关系及影响因素[J].中国计划生育和妇产科,2015,(07):0.
　WANG Jia-jia,WANG Zhi-bin,HUANG Wen-fang,et al.[J].Chinese Journal of Family Planning & Gynecotokology,2015,(5):0.
[4]柴健,蒋丽芳,张军喜,等.河南省农村地区769名妇女的孕前自我健康评价和自然流产的发生[J].中国计划生育和妇产科,2015,(12):0.
　CHAI Jian,JIANG Li-fang,ZHANG Jun-xi,et al.[J].Chinese Journal of Family Planning & Gynecotokology,2015,(5):0.
[5]闫梅,王晓银,毕烨,等.妊娠早期甲状腺功能及其抗体对自然流产的影响和预测价值[J].中国计划生育和妇产科,2016,(04):0.
　YAN Mei,WANG Xiao-yin,BI Ye,et al.[J].Chinese Journal of Family Planning & Gynecotokology,2016,(5):0.
[6]杨云,乔宠*.辅助生殖技术中自然流产的处理[J].中国计划生育和妇产科,2017,(1):12.
[7]卢丹妮,张为远*.人乳头瘤病毒感染对母婴健康影响的研究进展[J].中国计划生育和妇产科,2017,(5):26.
[8]章勤*,陈碧霞,张玉银,等.127例自然流产绒毛染色体微阵列检测及相关致病基因分析[J].中国计划生育和妇产科,2020,(1):38.
　ZHANG Qin*,CHEN Bi-xia,ZHANG Yu-yin,et al.Chromosome microarray detection of 127 cases of spontaneous abortion chorionic villus and related pathogenic gene analysis[J].Chinese Journal of Family Planning & Gynecotokology,2020,(5):38.

备注/Memo

备注/Memo:
广西自然科学基金青年基金项目（项目编号：2014 GXNSFBA 118199）
更新日期/Last Update: 2020-05-25