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关键词:
- 产前诊断 /
- 快速非整倍体检测技术 /
- 荧光质位杂交技术 /
- 荧光定童聚合酶链反应
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[1] Shaffer LG, Bui TH. Molecular eytogenetic and rapid aneuploidy detection methods in prenatal diagnosis[J]. Am J Med Genet, 2007, 145C:87-98. doi: 10.1002/ajmg.c.30114 [2] Klinger K, Landes G, Shook D, et al. Rapid detection of aneuploidies in uncultured anmiocytes by fluorescence in situ hybridization (FISH)[J]. AmJ Hum Genet, 1992, 51: 55-65. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682861/ [3] 王晨虹, 周璐, 李胜利.荧光原位杂交与核型分析技术产前诊断非整倍体的对比研究[J].现代妇产科进展, 2009, 18:201-204. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=xdfckjz200903011 [4] 徐爱群, 边旭明.荧光原位杂交技术用于快速产前诊断临床评价[J].国际妇产科学杂志, 2009, 36:172-177. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=gwyx-fckx200903002 [5] Witters I, Devriendt K, Legius E, et al. Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH) [J]. Prenat Diagn, 2002, 22: 29-33. doi: 10.1002/pd.225 [6] Pellestor F. Development and adaptation of the PRINS technology: an overview[J]. Methods Mol Biol, 2006, 334: 211-220. [7] Kallioniemi A, Kallioniemi OP, Suder D, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors[J]. Science, 1992, 258: 818-821. doi: 10.1126/science.1359641 [8] Pollack JR, Perou CM, Alizadeh AA, et al. Genome-wide analysis of DNA copy-number changes using cDNA microarrays[J]. Nat Genet, 1999, 23: 41-46. http://cn.bing.com/academic/profile?id=50378e3ba611be8bc19f1159d5e4411e&encoded=0&v=paper_preview&mkt=zh-cn [9] Ballif BC, Rorem E, Sundin K, et al. Detecting of low level mosaicism by array CGH in routine diagnostic specimens [J]. Am J Med Genet Part A, 2006, 140A:2757-2767. doi: 10.1002/ajmg.a.31539 [10] Vermeesch JB, Fiegler H, Leuw N, et al. Guidelines for molecular karytyping in constitutional genetic diagnosis[J]. Eur J Hum Genet, 2007, 15:1105-1114. doi: 10.1038/sj.ejhg.5201896 [11] 鲍如蓉, 朱宝生, 苏洁, 等.唐氏综合征快速产前诊断方法的研究[J].黔南民族医专学报, 2009, 22:18-22 http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=qnmzyzxb200901005 [12] Schrjver I, Cherny SC, Zehnder JL. Testing for matemal cell contamination in prenatal samples a comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories[J]. J Mol Diagn, 2007, 9:394-400. doi: 10.2353/jmoldx.2007.070017 [13] Van D, Boter OM, de Jongl D, et al. Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples[J]. Eur J Hum Genet, 2009, 17:112-121. doi: 10.1038/ejhg.2008.161 [14] 周大文, 许森, 颜景斌, 等.应用MLPA微阵列技术分析基因组内拷贝数变异的初步探讨[J].现代诊断与治疗, 2008, 19: 98-104. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=xdzdyzl200802014 [15] Vogelstein B, Kinzler KW. Digital PCR[J]. Proe Natal Acad Sci USA, 1999, 96: 9236-9241. doi: 10.1073/pnas.96.16.9236 [16] Fan HC, Blumenfeld YJ, EI-Sayed YY, et al. Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy[J]. Am J Obstet Gynecol, 2009, 5: 543-549. [17] UK National Screening Comittee. Antenatal screening-working standards for Down's syndrome screening. 2007 [S/OL][2009 06-08]. www.screening.nhs.uk/downs/home.htm. [18] Leung WC, Lau ET, Lau WL, et al. Rapid aneuploidy testing (knowing less) verus traditional karyotyping (knowing more) for advanced maternal age: what would be missed, who should decide[J]? Hong Kong Med J, 2008, 14:613. [19] Caine A, Maltby AE, Parkin CA, et al. Prenatal detection of Down's syndrome by rapid aneup loidy testing for chromosomes 13, 18, and21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment[J]. Lancet, 2005, 366: 123-128. doi: 10.1016/S0140-6736(05)66790-6 [20] Sparkes RL, Bernier FP, Chermos JE, et al. Suitaility of rapid aneuploidy detection for prenatal diagnosis[J]. J Obstet Gynaecol Can, 2008, 30: 781-787. doi: 10.1016/S1701-2163(16)32942-5 [21] Speevak MD, Dolling J, Terespolsky D, et al. An algorithm for the prenatal detection of chromosome anomalies by QFPCR and G-banded analysis[J]. Prenat Diagn, 2008, 28: 1221-1226. doi: 10.1002/pd.2159 [22] Sparkes RL, Bernier FP, Chermos JE, et al. Suitability of rapid aneuploidy detection for prenatal diagnosis[J]. J Obstet Gynaecol Can, 2008, 30: 781-787. doi: 10.1016/S1701-2163(16)32942-5 [23] Dickinson JE, Harcourt E, Murch A, et al. The selective use of rapid aneuploidy screening in prenatal diagnosis Australian and New Zealand[J]. J Obstet Gynecol, 2009, 49: 28-33. doi: 10.1111/j.1479-828X.2008.00939.x [24] Boormans E, Birmie E, Bilardo C, et al. Karyotyping or rapid aneuploidy detection in prenatal diagnosis? The diferent views of users and providers of prenatal care[J]. BJOG, 2009, 116:1396-1399. doi: 10.1111/j.1471-0528.2009.02229.x
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