Journal of Shandong University (Health Sciences) ›› 2021, Vol. 59 ›› Issue (7): 26-31.doi: 10.6040/j.issn.1671-7554.0.2021.0102

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A retrospective analysis of chromosome karyotypes in RSA couples from assisted reproductive population

ZHAO Bingqing1, GAO Xuan1, LI Jiangxia2   

  1. 1. Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University;
    National Research Center for Assisted Reproductive Technology and Reproductive Genetics;
    Key Laboratory of Reproductive Endocrinology of Ministry of Education, Jinan 250001, Shandong, China;
    2. Department of Medical Genetics, School of Basic Medical Sciences, Cheeloo College of Medicine, Shandong University, The Key Laboratory of Experimental Teratology, Ministry of Education, Jinan 250012, Shandong, China
  • Published:2021-07-16

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Abstract: Objective To analyze the peripheral blood chromosome karyotypes of patients assisted with reproductive technology, so as to provide reference for the clinical diagnosis and treatment and genetic counseling. Methods From Jan. 2015 to Dec. 2018, 1 438(719 couples)patients with recurrent spontaneous abortion(RSA)and 3 292(1 646 couples)patients with one-time spontaneous abortion undergoing assisted reproduction were selected for chromosome karyotype analysis. The types, incidences and ratios of chromosome variations between males and females were compared. Relationship between the number of spontaneous abortions and chromosome karyotypes was analyzed. Results Of the 1 438(719 couples)RSA patients, 320 chromosome abnormalities were detected, among which 165 were male cases and 155 were female cases. Chromosomal structural aberrations accounted for 57.58% of chromosomal abnormalities. The ratio of mutual translocations was the highest. For the number of abortions, significant differences were detected in chromosome reciprocal translocation and Robertsonian translocation between one-time spontaneous abortion group and RSA group(P<0.01), but no significant difference in chromosome inversion was observed(male P=0.21, female P=0.83). As the number of abortions increased, the trends of male and female chromosome aberration were statistically significant(P<0.01). Conclusion The rate of chromosomal abnormality in patients with one-time spontaneous abortion is lower than that in RSA patients. The most common chromosomal abnormality in RSA patients is chromosomal translocation, and the rate of chromosomal abnormality is not related to the number of abortions.

Key words: Assisted reproductive technology, Recurrent spontaneous abortion, Chromosomal abnormalities, Karyotype analysis

CLC Number: 

  • R394.2
[1] 徐两蒲, 王燕, 黄海龙, 等. 核型BoBs技术在自然流产遗传学诊断中的临床应用[J]. 中华妇产科杂志, 2018, 53(2): 124-126. XU Liangpu, WANG Yan, HUANG Hailong, et al. Clinical application of karyotype BoBs technique in genetic diagnosis of spontaneous abortion [J]. Chin J Obstet Gynecol, 2018, 53(2): 124-126.
[2] 包文晶, 王书琴, 陈秀娟. 复发性流产遗传学病因学研究进展[J]. 生殖医学杂志, 2021, 30(3): 405-409. BAO Wenjing, WANG Shuqin, CHEN Xiujuan. Research progress in genetic etiology of recurrent spontaneous abortion [J]. Journal of Reproductive Medicine, 2021, 30(3): 405-409.
[3] 高艳华, 伍人康, 高柳冰. 306对复发性自然流产夫妇外周血染色体异常和多态性分析[J].中国优生与遗传杂志, 2019, 27(2): 120-123. GAO Yanhua, WU Renkang, GAO Liubing. Analysis the chromosome abnormality and polymorphism in peripheral blood of patients with recurrent spontaneous abortion [J]. Chinese Journal of Birth Health & Heredity, 2019, 27(2): 120-123.
[4] 王文华, 王晨阳, 姜李乐,等. 复发性流产染色体异常及影响因素分析[J]. 中国妇产科临床杂志, 2018, 20(4): 303-306. WANG Wenhua, WANG Chenyang, JIANG Lile, et al. Analysis of chromosome abnormalities and influencing factors in recurrent spontaneous abortion [J]. Chin J Clin Obstet Gynecol, 2018, 20(4): 303-306.
[5] Sian C. “Gardner and Sutherlands chromosome abnormalities and genetic counseling” by R.J. McKinlay Gardner, David J. Amor. Oxford University Press [J]. Hum Genet, 2018, 137(11): 971-971.
[6] 符梅, 徐克惠. 复发性自然流产夫妇的病因分析[J]. 中华妇幼临床医学杂志(电子版), 2016, 12(4): 395-400. FU Mei, XU Kehui. Etiology analysis on recurrent spontaneous abortion [J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics, 2016, 12(4): 395-400.
[7] Morales R, Lledó B, Ortiz JA,et al. Chromosomal polymorphic variants increase aneuploidies in male gametes and embryos [J]. Syst Biol Reprod Med, 2016, 62(5): 317-324.
[8] 邵雨菡, 颜军昊. 染色体异常与自然流产[J]. 中国实用妇科与产科杂志, 2020, 36(11): 1045-1050. SHAO Yuhan, YAN Junhao. Chromosome abnormality and spontaneous abortion [J]. Chinese Journal of Practical Gynecology and Obstetrics, 2020, 36(11): 1045-1050.
[9] Scott JM, Jennifer E, Amanda I, et al. Translocations, inversions and other chromosome rearrangements [J]. Fertil Steril, 2017, 107(1): 19-26.
[10] 王晶晶, 王蕴端, 陈锡泉, 等. 394对复发性自然流产夫妇染色体核型分析[J]. 国际检验医学杂志, 2015, 36(1): 49-50. WANG Jingjing, WANG Yunduan, CHEN Xiquan, et al. Chromosomal analysis of 394 couples with recurrent spontaneous abortion [J]. International Journal of Medicine, 2015, 36(1): 49-50.
[11] 吴亚敏, 李超强, 黎丽芬, 等. 复发性自然流产夫妇染色体核型的检验分析[J]. 国际检验医学杂志, 2017, 38(1): 29-31. WU Yamin, LI Chaoqiang, LI Lifen, et al. Examination and analysis of recurrent spontaneous abortion couples karyotype[J]. International Journal of Medicine, 2017, 38(1): 29-31.
[12] 代鹏, 孔祥东. 河南地区586例染色体相互易位的热点断裂区域分析[J]. 中华医学遗传学杂志, 2020, 37(1): 37-40. DAI Peng, KONG Xiangdong. Analysis for common chromosomal breakpoint regions among 586 carriers of reciprocal translocations from Henan Province [J]. Chinese Journal Medical Genetics, 2020, 37(1): 37-40.
[13] 卢建, 梁杰, 袁腾龙, 等. 拷贝数变异测序在染色体易位夫妇植入前遗传学诊断中的临床应用[J]. 中华产科急救电子杂志, 2019, 8(3): 174-178. LU Jian, LIANG Jie, YUAN Tenglong, et al. Clinical application of high-throughput sequencing technology in pre-implantation genetic diagnosis for chromosomal translocations [J]. Chinese Journal of Obstetric Emergency, 2019, 8(3): 174-178.
[14] Zhang L, Wei D, Zhu Y, et al. Interaction of acrocentric chromo-some involved in translocation and sex of the carrier influences the proportion of alternate segregation in autosomal reciprocal translocations [J]. Hum Reprod, 2019, 34(2): 380-387.
[15] 曲文玉. 植入前遗传学诊断及筛查咨询[J]. 中国实用妇科与产科杂志, 2016, 32(3): 231-234. QU Wenyu. Counseling of preimplantation genetic diagnosis and screening [J]. Chinese Journal of Practical Gynecology and Obstetrics, 2016, 32(3): 231-234.
[16] 谭小方, 丁家怡. 辅助生殖技术中遗传咨询的伦理探讨[J]. 中国妇幼保健, 2019, 34(15): 3623-3626. TAN Xiaofang, DING Jiayi. Ethical discussion on genetic counseling in assisted reproductive technology [J]. Maternal and Child Health Care of China, 2019, 34(15): 3623-3626.
[17] 张雯珂, 徐晓菲, 李敏, 等. 染色体易位携带者胚胎植入前遗传学诊断进展[J]. 国际生殖健康/计划生育杂志, 2015, 34(4): 324-327. ZHANG Wenke, XU Xiaofei, LI Min, et al. Pre-implantation genetic diagnosis in embryos of translocation carriers [J]. Journal of International Reproductive Health/Family Planning, 2015, 34(4): 324-327.
[18] Nathan RT, Katherine T, Michael R, et al. SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts [J]. J Assist Reprod Genet, 2016, 33(8): 1115-1119.
[19] Morales R, Lledó B, Ortiz JA, et al. Chromosomal polymorphic variants increase aneuploidies in male gametes and embryos [J]. Syst Biol Reprod Med, 2016, 62(5): 317-324.
[20] Tianxiang Ni, Jing Li, Hong Chen, et al. Male chromosomal polymorphisms reduce cumulative live birth rate for IVF couples [J]. J Assist Reprod Genet, 2017, 34(8): 1017-1025.
[21] 杨明雪. 染色体多态性对辅助生殖妊娠结局的影响[J]. 黑龙江医药, 2019, 32(4): 910-912. YANG Mingxue. Effect of chromosome polymorphism on pregnancy outcome in assisted reproductive system [J]. Heilongjiang Medicine Journal, 2019, 32(4): 910-912.
[22] Sun L, Chen ZH, Yang L, et al. Chromosomal polymorphisms are independently associated with multinucleated embryo formation [J]. J Assist Reprod Genet, 2018, 35(1): 149-156.
[23] Minocherhomji S, Athalye AS, Madon PF, et al. A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype [J]. Fertil Steril, 2009, 92(1): 88-95.
[24] Arsène Mekinian, Jonathan Cohen, Jaume Alijotas-Reig, et al. Unexplained recurrent miscarriage and recurrent implantation failure: Is There a Place for Immunomodulation? [J]. Am J Reprod Immunol, 2016, 76(1): 8-28.
[25] 曹琴英, 彭园园, 穆卫红, 等. 不明原因复发性流产女性FMR1基因CGG重复序列多态性研究[J]. 生殖医学杂志, 2021, 30(2): 198-202. CAO Qinying, PENG Yuanyuan, MU Weihong, et al. Polymorphism of CGG repeat sequence of FMRl gene in women with unexplained recurrent spontaneous abortion [J]. Journal of Reproductive Medicine, 2021, 30(2): 198-202.
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