禹虹;边旭明;

• 1:中国医学科学院北京协和医学院北京协和医院妇产科

摘要(Abstract)：

<正>染色体病是因染色体数目、结构畸变造成遗传物质得失所引起的遗传性疾病,目前的医疗水平难以治疗或无法治疗,因此产前诊断尤为重要。我国大规模开展的产前诊断手段主要是细胞遗传学染色体核型分析,所培养的羊水细胞和绒毛细胞核型分析的精确度分别为99.4%～99.8%和97.5%～99.6%[1],被认定是产前诊断的金标准。近年来随着高龄产妇的增加、唐氏血清筛查的普及、超声技术的发展,需要进行产前诊断的孕妇日益增多,核

关键词(KeyWords)： 产前诊断;快速非整倍体检测技术;荧光原位杂交技术;荧光定量聚合酶链反应

Abstract:

Keywords:

基金项目(Foundation):

作者(Authors): 禹虹;边旭明;

参考文献(References)：

• [1]Shaffer LG,Bui TH.Molecular cytogenetic and rapid aneu-ploidy detection methods in prenatal diagnosis[J].Am J Med Genet,2007,145C:87-98.
• [2]Klinger K,Landes G,Shook D,et al.Rapid detection of aneuploidies in uncultured anmiocytes by fluorescence in situ hybridization(FISH)[J].Am J Hum Genet,1992,51:55-65.
• [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.
• [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.
• [5]Witters I,Devriendt K,Legius E,et al.Rapid prenatal di-agnosis of trisomy21in5049consecutive uncultured amniot-ic fluid samples by fluorescence in situ hybridisation(FISH)[J].Prenat Diagn,2002,22:29-33.
• [6]Pellestor F.Development and adaptation of the PRINS tech-nology:an overview[J].Methods Mol Biol,2006,334:211-220.
• [7]Kallioniemi A,Kallioniemi OP,Suder D,et al.Compara-tive genomic hybridization for molecular cytogenetic analysis of solid tumors[J].Science,1992,258:818-821.
• [8]Pollack JR,Perou CM,Alizadeh AA,et al.Genome-wideanalysis of DNA copy-number changes using cDNA microar-rays[J].Nat Genet,1999,23:41-46.
• [9]Ballif BC,RoremE,Sundin K,etal.Detecting of lowlevel mosaicism by array CGH in routine diagnostic specimens[J].Am J Med Genet Part A,2006,140A:2757-2767.
• [10]Vermeesch JB,Fiegler H,Leeuw N,et al.Guidelines for molecular karytyping in constitutional genetic diagnosis[J].Eur J Hum Genet,2007,15:1105-1114.
• [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
• [12]Schrijver I,Cherny SC,Zehnder JL.Testing for maternal cell contamination in prenatal samples a comprehensive sur-vey of current diagnostic practices in35molecular diagnostic laboratories[J].J Mol Diagn,2007,9:394-400.
• [13]Van D,Boter OM,de Jongl D,etal.Rapid aneuploidy de-tection with multiplex ligation-dependent probe amplification:a prospective study of4000amniotic fluid samples[J].Eur J Hum Genet,2009,17:112-121.
• [14]周大文,许淼,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.
• [15]Vogelstein B,KinzIer KW.Digital PCR[J].Proc Natal Acad Sci USA,1999,96:9236-9241.
• [16]Fan HC,Blumenfeld YJ,EI-Sayed YY,et al.Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneu-ploidy[J].Am J Obstet Gynecol,2009,5:543-549.
• [17]UK National Screening Committee.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 tes-ting(knowing less)verus traditional karyotyping(knowing more)for advanced maternal age:what would be missed,who should decide[J]?Hong Kong Med J,2008,14:6-13.
• [19]Caine A,Maltby AE,Parkin CA,et al.Prenatal detection of Down s syndrome by rapid aneup loidy testing for chromo-somes13,18,and21by FISHor PCR without a full karyo-type:a cytogenetic risk assessment[J].Lancet,2005,366:123-128.
• [20]Sparkes RL,Bernier FP,Chernos JE,et al.Suitability of rapid aneuploidy detection for prenatal diagnosis[J].J Ob-stet Gynaecol Can,2008,30:781-787.
• [21]Speevak MD,Dolling J,Terespolsky D,et al.An algorithm for the prenatal detection of chromosome anomalies by QF-PCR and G-banded analysis[J].PrenatDiagn,2008,28:1221-1226.
• [22]Sparkes RL,Bernier FP,Chernos JE,et al.Suitability of rapid aneuploidy detection for prenatal diagnosis[J].J Ob-stet Gynaecol Can,2008,30:781-787.
• [23]Dickinson JE,Harcourt E,Murch A,et al.The selective use of rapid aneuploidy screening in prenatal diagnosis Aus-tralian and NewZealand[J].J ObstetGynecol,2009,49:28-33.
• [24]Boormans E,Birnie E,Bilardo C,et al.Karyotyping or rapid aneuploidy detection in prenatal diagnosis?The differ-ent views of users and providers of prenatal care[J].BJOG,2009,116:1396-1399.