Application of fluorescence in situ hybridization in prenatal diagnosis

doi:10.3969/j.issn.1006-7795.2020.02.017

Journal of Capital Medical University ›› 2020, Vol. 41 ›› Issue (2): 249-252.doi: 10.3969/j.issn.1006-7795.2020.02.017

• Clinical Research • Previous Articles Next Articles

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）.

Abstract

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

CLC Number:

R714.54

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.

0
/ / Recommend

Add to citation manager EndNote|Reference Manager|ProCite|BibTeX|RefWorks

URL: https://journal03.magtech.org.cn/Jweb_sdykdxxb/EN/10.3969/j.issn.1006-7795.2020.02.017

https://journal03.magtech.org.cn/Jweb_sdykdxxb/EN/Y2020/V41/I2/249

References

[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.

Application of fluorescence in situ hybridization in prenatal diagnosis

PDF

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 5

Recommended Articles

Metrics

Comments

[1]	Hou Lei, Wang Xiaoxin, Liu Liheng, Zhang Weiyuan, Wang Xin. Chromosomal analysis in 134 cases of fetuses with growth restriction [J]. Journal of Capital Medical University, 2022, 43(3): 375-379.
[2]	Hou Lei, Li Jieyan, Xing Yu, Liu Liheng, Wang Xin. Ultrasonographic features of fetus with 22q11.2 deletion syndrome [J]. Journal of Capital Medical University, 2021, 42(2): 183-187.
[3]	Kong Lijun, Zhou Li, Yang Li, Fan Ling. Value of ultrasound and magnetic resonance imaging in prenatal diagnosis of placenta accreta [J]. Journal of Capital Medical University, 2016, 37(2): 238-240.
[4]	Yan Wei, Kang Wenting, Chen Shan, Liu Yuexin. Clinical value of fluorescence in situ hybridization in early detection of postoperative recurrence of bladder urothelial cancer [J]. Journal of Capital Medical University, 2014, 35(3): 298-301.
[5]	Zhao Chunli;Zou Xifeng;Cai Qing;Gao Erjing;Liu Yujun;Zhao Huanying;Zhang Jinlu;Xu Qunyuan. Detection of the Signal from the Mouse Y Chromosome in Situ Hybridization with Direct Tyramine Signal Amplification [J]. Journal of Capital Medical University, 2008, 29(5): 597-600.