全部 标题 作者
关键词 摘要

OALib Journal期刊
ISSN: 2333-9721
费用:99美元

查看量下载量

相关文章

更多...
-  2018 

荧光原位杂交在快速产前诊断中的应用 Application of Fluorescence in situ Hybridization in Rapid Prenatal Diagnosis

Keywords: 荧光原位杂交,羊水核型分析,产前诊断

Full-Text   Cite this paper   Add to My Lib

Abstract:

目的:探讨荧光原位杂交(FISH)技术应用于快速产前诊断胎儿染色体非整倍体数目异常中的临床价值。方法:对247例孕16-27周孕妇的羊水样本进行FISH检测,同时对所有样本进行羊水细胞培养和常规G显带核型分析,通过对比,对FISH技术用于产前诊断进行评价。结果:245例样本成功杂交,获得FISH诊断结果,检出异常60例,其中,30例21-三体、15例18-三体、1例13-三体、9例性染色体异常和5例嵌合体。242例羊水细胞培养成功,核型分析与FISH结果一致。另外,羊水核型分析检出6例染色体结构异常,FISH检测未能检出。结论:FISH技术能快速、准确的检测出胎儿染色体数目异常,但是并不能完全替代羊水细胞培养的核型分析,是一种行之有效的快速产前诊断方法

References

[1]  孟跃进,黄飞飞.妊娠中期胎儿染色体病的产前诊断[J].中国实用妇科与产科杂志,2004,20(12):739-740.Meng YJ,Huang FF.The prenatal diagnosis of chromosomal disease in the second trimester[J].Chinese Journal of Practical Gynecology and Obstetrics,2004,20(12):739-740.
[2]  Daniel A,Athayde N,Ogle R,et al Prospective ranking of the sonographic markers for aneuploidy:data of2 143prenatal cytogenetic diagnoses referred for abnormalities on ultrasound[J].Aust N Z J Obstet Gynaecol,2003,43(1):16-26.
[3]  染色体微阵列分析技术在产前诊断中的应用协作组.染色体微阵列分析技术在产前诊断中的应用专家共识[J].中华妇产科杂志,2014,49(8):570-572.The Collaboration group for Application of chromosome microarray analysis in prenatal diagnosis.Expert consensus on the application of chromosome microarray analysis in prenatal diagnosis[J].Chinese Journal of Obstetrics and Gynecology,2014,49(8):570-572.
[4]  梁永昌,陈敏,刘严德,等.产前诊断中常见染色体异常的快速诊断[J].中国实用妇科与产科杂志,2008,24(2):98-101.Liang YC,Chen M,Liu YD,et al.The rapid diagnosis of prenatal diagnosis of common chromosomal abnormalities[J].Chinese Journal of Practical Gynecology and Obstetrics,2008,24(2):98-101.
[5]  Witters I,Devriendt K,Legius E,et al.Rapid prenatal diagnosis of trisomy 21in 5049consecutive uncultured amniotic fluid samples by fluorescence in situ hybridization(FISH)[J].Prenat Diagn,2002,22(1):29-33.
[6]  Locatelli A,Mariani S,Ciriello E,et al.Role of FISH on uncultured amniocytes for the diagnosis of aneuploidies in the presence of fetal anomalies[J].Fetal Diagn Ther,2005,20:1-4.
[7]  Faas BH,Cirigliano V,Bui TH.Rapid methods for targeted prenatal diagnosis of common chromosome aneuploidies[J].Semin Fetal Neonatal Med,2011,16(2):81-87.
[8]  Jia CW,Wang SY,Ma YM,et al.Fluorescence in situ hybridization in uncultured am-niocytes for detection of aneuploidy in 4 210 prenatal cases[J].Chin Med J(Engl),2011,124(8):1 164-1 168.
[9]  Feldman B,Ebrahim SA,Hazan SL,et al.Routine prenatal diagnosis of aneuploidy by FISH studies in high-risk pregnancies[J].Am J Med Genet,2000,90(3):233-238.
[10]  Garcia-Sagredo JM.Fifty years of cytogenetics:aparallel view of the evolution of cytogenetics and genotoxicology[J].Biochim Biophys Acta,2008,1 779(6-7):363-375.
[11]  Speicher MR,Carter NP.The new cytogenetics:blurring the boundaries with molecular biology[J].Nat Rev Genet,2005,6(10):782-792.

Full-Text

Contact Us

service@oalib.com

QQ:3279437679

WhatsApp +8615387084133