荧光原位杂交在产前诊断中的应用

doi:10.3969/j.issn.1006-7795.2020.02.017

首都医科大学学报 ›› 2020, Vol. 41 ›› Issue (2): 249-252.doi: 10.3969/j.issn.1006-7795.2020.02.017

荧光原位杂交在产前诊断中的应用

杨树法¹, 李嘉琪¹, 王天铎¹, 司艳梅¹, 刘欣²

1. 首都医科大学附属北京妇产医院产前诊断中心, 北京 100026;
2. 首都医科大学基础医学院医学遗传学与发育生物学系, 北京 100069

收稿日期:2019-09-20 出版日期:2020-04-21 发布日期:2020-04-16
通讯作者: 刘欣 E-mail:lxlgh@ccmu.edu.cn
基金资助:
北京市教育委员会科技计划项目（KM201910025027）。

Application of fluorescence in situ hybridization in prenatal diagnosis

Yang Shufa¹, Li Jiaqi¹, Wang Tianduo¹, Si Yanmei¹, Liu Xin²

1. Prenatal Diagnostic Center, Beijing Obstetrics&Gynecology Hospital, Capital Medical University, Beijing 100026, China;
2. Department of Genetics, School of Basic Medical Sciences, Capital Medical University, Beijing 100069, China

Received:2019-09-20 Online:2020-04-21 Published:2020-04-16
Supported by:
This study was supported by Beijing Municipal Science and Technology Project （KM201910025027）.

摘要/Abstract

摘要： 目的分析荧光原位杂交分析技术（fluorescence in situ hybridization，FISH）在快速诊断羊水细胞染色体异常中的应用价值。方法以2013年6月至2017年12月间在首都医科大学附属北京妇产医院产前诊断中心接受羊水穿刺的1 676名孕妇为研究对象，抽取羊水后同时进行荧光原位杂交分析和染色体核型分析，然后比对两种检测的检测结果。结果共收集1 676名同时进行核型分析和FISH检测的孕妇检测结果。羊水穿刺指征包括：高龄（637例，38.1%）、唐氏筛查高危（699例，41.71%）、无创游离DNA检测高风险（315例，18.79%）、B超异常（16例，0.95%）等。FISH检测结果阳性240例（14.13%），包括21三体140例、18三体44例、13三体14例、性染色异常32例以及嵌合体10例。核型分析阳性252例，除包括上述240例FISH检测阳性结果外，还包括22号染色嵌合体1例、平衡结构重排6例、非平衡结构重排1例以及多态4例。结论 FISH检测能够快速准确诊断21号、18号、13号以及性染色体数目异常，根据FISH结果可进行进一步临床处理。怀疑胎儿携带其他染色体异常时，需联合核型分析等方法综合使用。

关键词: 荧光原位杂交, 核型分析, 产前诊断, 染色体异常

Abstract: Objective To explore application of fluorescence in situ hybridization(FISH) in fast diagnosing chromosomal aberration of amniotic cells. Methods The pregnant under going amniocentesis in Beijing Gynecology & Obsterics Hospital Capital Medical University from 2013 June to 2016 December were enrolled. Amniotic fluid cells of 1 676 patients were analyzed by FISH and karyotype analysis. Results Indications of 1 676 pregnant included:advanced maternal age(637, 38.1%), high risk of serum screening(699, 41.71%), high risk of cell fetal DNA testing(315, 18.79%), abnormal results of B ultrasound(16, 0.95%). About 240 patients got positive FISH results, including 140 trisomy 21, 44 trisomy 18, 14 trisomy 13, 32 sex chromosomal aneuploidy and 10 mosaics. Among 1 676 patients, 252 patients got positive karyotype type, including 240 above positive FISH results, 1 mosaic of chromosome 22, 6 balanced chromosomal rearrangement, 1 unbalanced chromosomal rearrangement and 4 polymorphism. Conclusion Chromosome 21, chromosome 18, chromosome 13 and sex chromosomal aneuploidy can be quickly diagnosed by FISH. However, karyotype analysis should be adopted in the other suspected chromosomal aberrations.

Key words: fluorescence in situ hybridization, karyotype analyse, prenatal diagnosis, chromosomal aberrations

中图分类号:

R714.54

杨树法, 李嘉琪, 王天铎, 司艳梅, 刘欣. 荧光原位杂交在产前诊断中的应用[J]. 首都医科大学学报, 2020, 41(2): 249-252.

Yang Shufa, Li Jiaqi, Wang Tianduo, Si Yanmei, Liu Xin. Application of fluorescence in situ hybridization in prenatal diagnosis[J]. Journal of Capital Medical University, 2020, 41(2): 249-252.

参考文献

[1] 戚庆炜,郝娜,周京,等.羊水间期细胞荧光原位杂交检测残余风险评估:6125例产前细胞遗传学诊断回顾性分析[J].生殖医学杂志, 2015, 24(6):429-435.
[2] Yang S F, Lv J Y, Si Y M, et al. Diagnostic differences between patients opting for non-invasive prenatal testing and patients having traditional prenatal diagnosis[J]. Int J Clin Exp Pathol, 2018, 11(5):2831-2838.
[3] Xiao H, Yang Y L, Zhang C Y, et al. Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis[J]. J Obstet Gynaecol, 2016, 36(3):293-296.
[4] ISCN. 2016, An International system for human cytogenomic nomenclature[S]. Switzerland:KARGER, 2016.
[5] Li C, Chen B, Zheng J, et al. Prenatal diagnosis of BACs-on-beads assay in 3647 cases of amniotic fluid cells[J]. Reprod Sci, 2019, 26(7):1005-1012.
[6] Zheng J, Yang X, Lu H, et al. Prenatal diagnosis of sex chromosome mosaicism with two marker chromosomes in three cell lines and a review of the literature[J]. Mol Med Rep, 2019, 19(3):1791-1796.
[7] Ketheeswaran S, Alsbjerg B, Christensen P, et al. 45,X/46,XY mosaicism and normozoospermia in a patient with male phenotype[J]. Case Rep Med, 2019, 2019(1):1-5.
[8] Srebniak M I, Joosten M, Knapen M, et al. Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations:systematic review and meta-analysis[J]. Ultrasound Obstet Gynecol, 2018, 51(4):445-452.
[9] Koumbaris G, Kypri E, Tsangaras K, et al. Cell-free DNA analysis of targeted genomic regions in maternal plasma for non-invasive prenatal testing of trisomy 21, trisomy 18, trisomy 13, and fetal sex[J]. Clin Chem, 2016, 62(6):848-855.
[10] Committee on G, the Society for Maternal-Fetal M. Committee opinion No.682:microarrays and next-generation sequencing technology:the use of advanced genetic diagnostic tools in obstetrics and gynecology[J]. Obstet Gynecol, 2016, 128(6):e262-e268.
[11] Cheng Y, Leung W C, Leung T Y, et al. Women's preference for non-invasive prenatal DNA testing versus chromosomal microarray after screening for Down syndrome:a prospective study[J]. BJOG, 2018, 125(4):451-459.
[12] Williams J, Rad S, Beauchamp S, et al. Utilization of noninvasive prenatal testing:impact on referrals for diagnostic testing[J]. Am J Obstet Gynecol, 2015, 213(1):102 e1-6.
[13] Cheng Y, Leung W C, Leung T Y, et al. Women's preference for non-invasive prenatal DNA testing versus chromosomal microarray after screening for Down syndrome:a prospective study[J]. BJOG, 2018, 125(4):451-459.
[14] Korpi-Steiner N, Chiu R W K, Chandrasekharan S, et al. Emerging considerations for noninvasive prenatal testing[J]. Clin Chem, 2017, 63(5):946-953.

荧光原位杂交在产前诊断中的应用

Application of fluorescence in situ hybridization in prenatal diagnosis

PDF

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 8

编辑推荐

Metrics

本文评价

[1]	侯磊, 王小新, 刘丽恒, 张为远, 王欣. 134例生长受限胎儿产前诊断结果分析[J]. 首都医科大学学报, 2022, 43(3): 375-379.
[2]	侯磊, 李介岩, 邢宇, 刘丽恒, 王欣. 22q11.2微缺失综合征胎儿的超声特征[J]. 首都医科大学学报, 2021, 42(2): 183-187.
[3]	程姣姣, 阮祥燕, 李扬璐, 杜娟, 王虎生, Alfred O. Mueck. 北京及周边地区早发性卵巢功能不全的病因学研究[J]. 首都医科大学学报, 2018, 39(4): 494-498.
[4]	孔丽君, 周莉, 杨丽, 范玲. 产前超声检查和磁共振成像对胎盘植入诊断的准确性评估[J]. 首都医科大学学报, 2016, 37(2): 238-240.
[5]	闫伟, 康雯婷, 陈山, 刘跃新. 荧光原位杂交技术在膀胱尿路上皮癌术后复发的早期检测中的临床应用价值[J]. 首都医科大学学报, 2014, 35(3): 298-301.
[6]	俞巍;谷俊朝;徐秀红;宋茂民;白庆阳;刘建中. 荧光原位杂交法检测乳腺癌HER-2/neu表达及临床意义[J]. 首都医科大学学报, 2009, 30(1): 93-96.
[7]	赵春礼;邹西峰;蔡青;高尔静;刘玉军;赵焕英;张进禄;徐群渊. 应用直接酪胺信号放大方法显示Y染色体荧光原位杂交信号[J]. 首都医科大学学报, 2008, 29(5): 597-600.
[8]	陈东玲. 人脑瘤培养细胞染色体的制备(附10例核型初步分析)[J]. 首都医科大学学报, 1987, 8(1): 45-50.