Value of SNP-Array technique in genetic analysis of abortion tissue

Published on Jan. 28, 2023Total Views: 1251 times Total Downloads: 548 times Download Mobile

Author: Wei-Yun ZHANG ¹ Yu-Min WANG ¹ Xiu-Qin LI ¹  Feng-Qi LI ²

Affiliation: 1. Zhoukou Maternal and Child Health Hospital (Municipal Children's Hospital), Zhoukou 466000, Henan Province, China 2. Zhoukou Institute of Pediatrics, Zhoukou 466000, Henan Province, China

Keywords: Single nucleotide polymorphism microarray Genetics Chromosome Abortion tissue

DOI: 10.12173/j.issn.1004-4337.202212004

Reference: Zhang WY, Wang YM, Li XQ, Li FQ. Value of SNP-Array technique in genetic analysis of abortion tissue[J]. Journal of Mathematical Medicine, 2023, 36(1): 55-60. DOI: 10.12173/j.issn.1004-4337.202212004.[Article in Chinese]  Copied

Abstract
Full-text
References

Abstract

Objective To investigate the value of single nucleotide polymorphism microarrays (SNP-arrays) in the genetic analysis of abortion tissues.

Method A total of 50 patients diagnosed with missed miscarriage in Zhoukou Maternal and Child Health Hospital from July 2020 to February 2022 were selected as study subjects, and numbered in the order of patient inclusion. Each patient was detected separately using SNP-array technology (SNP-array group) and fluorescence in situ hybridization technique (control group) to compare the detection of chromosomal abnormalities.

Result There were 34 cases of chromosomal abnormalities, 22 cases of euploidy abnormalities and 12 cases of aneuploidy abnormalities in the SNP-array group, and 24 cases, 15 cases and 9 cases in the control group, respectively. The detection rate of chromosomal abnormalities in the SNP-array group (68.00%) was higher than that in the control group (48.00%), and the difference was statistically significant (X²=4.105, P=0.043). There were 9 cases of SNP-array microduplicate microdeletions, including single-point duplication on No.33, single-point deletion on No.7, two-point repeat on No.2, two-point deletion on No.41, and the remaining 5 microduplicate microdeletions with 2 sites or more.

Conclusion SNP-array technology has a high detection rate of abnormal chromosomes in the genetic analysis of abortion tissue, and has good clinical application value.

Full-text

Please download the PDF version to read the full text: download

References

1.Kirsten Sasaki, Charles E. Miller. Hysteroscopic morcellation for missed abortion[J]. Fertility and Sterility, 2021, 116(3): 875-877. DOI: 10.1016/j.fertnstert. 2021.07.875.

2.慕铭坤,孙思敏,郑威,等.辅助生殖技术助孕女性稽留流产绒毛组织各型染色体异常发生率的研究[J].中华生殖与避孕杂志, 2021, 41(6): 538-542. [Mu MK, Sun SM, Zheng W, et al. The incidence of chromosomal abnormalities in the villus tissue of women with missed abortion by assisted reproductive technology[J]. Chinese Journal of Reproduction and Contraception, 2021, 41(6): 538-542.] DOI: 10.3760/cma.j.cn101441-20200922-00524.

3.周珊珊, 岳艳玲. 不同月经初潮年龄的女性稽留流产胚胎绒毛染色体结果分析[J]. 湘南学院学报(医学版), 2021, 23(3): 34-36. [Zhou SS, Yue YL. Chromosome analysis of missed aborted embryo villus in women with different menarche ages[J]. Journal of Xiangnan University(Medical Sciences), 2021, 23(3): 34-36.] DOI: 10.16500/j.cnki.1673-498x.2021.03.008.

4.黄艳, 王晓华, 侯东霞, 等. 单核苷酸多态性微阵列芯片与荧光原位杂交在流产绒毛组织遗传学分析中的比较研究[J]. 国际检验医学杂志, 2021, 42(1): 87-90. [Huang Y, Wang XH, Hou DX, et al. Comparative study of single nucleotide polymorphism microarray and fluorescence in situ hybridization in histogenetic analysis of abortion villi[J]. International Journal of Laboratory Medicine, 2021, 42(1): 87-90.] DOI: 10.3969/j.issn.1673-4130.2021.01.020.

5.杨灿锋, 徐征凤, 肖建平. 122份稽留流产绒毛的FISH检测与染色体核型分析结果的对比[J]. 中国优生与遗传杂志, 2019, 27(10): 1177-1178, 1195. [Yang CF, Xu ZF, Xiao JP. Comparison of FISH and chromosome karyotype analysis in 122 missed abortion villi[J]. Chinese Journal of Birth Health & Heredity, 2019, 27(10): 1177-1178, 1195.] DOI: CNKI:SUN:ZYYA.0.2019-10-009.

6.熊卿圆, 岑锦明, 曾赤佳. 应用单核苷酸多态性微阵列技术对不明原因智力低下/发育迟缓患儿的遗传学分析[J]. 广东医学, 2020, 41(20): 2096-2101. [Xiong QY, Cen JM, Zeng CJ. Genetic analysis of children with unexplained mental retardation/ developmental delay using single nucleotide pol-ymorphism array[J]. Guangdong Medical Journal, 2020, 41(20): 2096-2101.] DOI: 10.13820/j.cnki.gdyx.20192358.

7.中华医学会计划生育学分会. 早期妊娠稽留流产治疗专家共识[J]. 中国实用妇科与产科杂志, 2020, 36(1): 70-73. [Family Planning Branch of Chinese Medical Association. Expert consensus on treatment of missed abortion in early pregnancy[J]. Chinese Journal of Practical Gynecology and Obstetrics, 2020, 36(1): 70-73.] DOI: 10.19538/j.fk2020010117.

8.顾恒, 杨慧, 杜梦轩, 等. 75例早期自然流产组织物的单核苷酸多态性微阵列芯片结果分析[J]. 中国优生与遗传杂志, 2021, 29(5): 648-652. [Gu H, Yang H, Du MX, et al. Analysis of singlenucleotide polymorphism array detection of 75 cases of early spontaneous abortion[J]. Chinese Journal of Birth Health & Heredity, 2021, 29(5): 648-652.] https://doc.taixueshu.com/journal/20210149zgysyyczz.html.

9.魏洁,余珍,刘璇,等.单核苷酸多态性微阵列技术检测175例稽留流产组织染色体异常分析[J]. 中国优生与遗传杂志, 2021, 29(3): 389-391. [Wei J, Yu Z, Liu X, et al. Analysis of 175 cases of missed miscarriage by SNP array technique[J]. Chinese Journal of Birth Health & Heredity, 2021, 29(3): 389-391.] http://qikan.cqvip.com/Qikan/Article/Detail?id=7105483190.

10.程苾恒, 陈建华, 徐万洲. 单核苷酸多态性微阵列技术检测自然流产妊娠产物的应用价值[J]. 中华妇幼临床医学杂志(电子版), 2018, 14(2): 236-240. [Cheng BH, Chen JH, Xu WZ. Application value of single nucleotide polymorphism microarray technology in detecting spontaneous abortion pregnancy products[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2018, 14(2): 236-240.] DOI: 10.3877/cma.j.issn.1673-5250.2018.02.018.

11.崔静静, 王莉, 吴青青, 等. 单核苷酸多态性微阵列技术在早期胎停育流产绒毛组织检测中的应用[J]. 中国医刊, 2019, 54(12): 1331-1335. [Cui JJ, Wang L, Wu QQ, et al. Application of single nucleotide polymorphism array in detection of villi tissue in early suspending embryo growth[J]. Chinese Journal of Medicine, 2019, 54(12): 1331-1335.] DOI: 10.3969/j.issn.1008-1070.2019.12.018.

12.沈晔, 钱芳波, 司雯淼, 等. 单核苷酸多态性微阵列芯片在分析流产或死胎染色体中的应用[J]. 现代妇产科进展, 2022, 31(2): 131-135, 139. [Shen Y, Qian FB, Si WM, et al. Application of Single Nucleotide Polymorphism Microarray Chip in the Analysis of Abortion or stillbirth Chromosomes[J]. Progress in Obstetrics and Gynecology, 2022, 31(2): 131-135, 139.] DOI: 10.13283/j.cnki.xdfckjz.2022.02.009.

13.孙丹, 王小艳, 罗曼曼, 等. 应用单核苷酸多态性微阵列芯片及核型分析检测7例21q部分三体的产前遗传学诊断[J]. 生殖医学杂志, 2022, 31(6): 834-837. [Sun D, Wang XY, Luo MM, et al. Prenatal genetic diagnosis of 7 cases of trisomy 21q detected by single nucleotide polymorphism microarray and karyotype analysis[J]. Journal of Reproductive Medicine, 2022, 31(6): 834-837.] DOI: 10.3969/j.issn.1004-3845.2022.06.020.

14.谢晓蕊.单核苷酸多态性微阵列技术（SNP-array）在自然流产遗传学诊断中的应用[D].福州: 福建医科大学, 2018.

15.朱丽芬, 张慧敏, 杜绮婷, 等. 应用单核苷酸多态性微阵列分析早、中孕期流产的遗传学因素[J]. 中华医学遗传学杂志, 2022, 39(6): 576-580. [Zhu LF, Zhang HM, Du QT, et al. Comprehensive genetic analysis in first or second trimester pregnancy loss using chromosomal microarray with single nucleotide polymorphism probes[J]. Chinese Journal of Medical Genetics, 2022, 39(6): 576-580.] DOI: 10.3760/cma.j.cn511374-20210506-00387.

16.夏政怡, 周冉, 孟露露, 等. 染色体微阵列分析技术在偶发自然流产遗传学诊断中的应用[J]. 现代妇产科进展, 2022, 31(3): 191-195. [Xia ZY, Zhou R, Meng LL, et al. Application of chromosomal microarray analysis in genetic diagnosis of spontaneous a-bortion[J]. Progress in Obstetrics and Gynecology, 2022, 31(3): 191-195.] DOI: 10.13283/j.cnki.xdfckjz.2022.03.007.

17.何文凤, 姜艳华, 黄红丽, 等. 单核苷酸多态性微阵列芯片技术在稽留流产伴复发性流产诊断中的应用[J].实用预防医学, 2020, 27(8): 1001-1004. [He WF, Jiang YH, Huang HL, et al. Application of single nucleotide polymorphism microarray technology in the diagnosis of missed abortion with recurrent abortion[J]. Practical Preventive Medicine, 2020, 27(8): 1001-1004.] DOI: 10.3969/j.issn.1006-3110.2020.08.031.