期刊文献+

胎儿染色体异常诊断方法的研究进展 被引量:12

原文传递
导出
摘要 胎儿细胞培养、染色体核型分析是胎儿染色体异常最经典的检测方法。诊断的准确性在培养的羊水细胞中可达99.4%~99.8%,绒毛取样(chorionic villus sampling,CVS)培养为97.5%~99.6%。但对小于10Mb碱基的染色体片段缺失或重复,普通核型难以检出,即使是高分辨染色体核型有时也难作出确切诊断。由于G显带本身的特点,
出处 《中华围产医学杂志》 CAS 2009年第2期105-108,共4页 Chinese Journal of Perinatal Medicine
  • 相关文献

参考文献39

  • 1Flint J,Knight S.The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation.Curr Opin Genet Dev,2003,13:310-316.
  • 2Knight SJ,Flint J.The use of subtelomeric probes to study mental retardation.Methods Cell Biol,2004,75:799-831.
  • 3Leung WC,Lam YH,Wong Y,et al.The effect of fast reporting by amnio-PCR on anxiety levels in women with positive biochemical screening for Down syndrome:a randomized controlled trial.Prenat Diagn,2002,22:256-259.
  • 4Pettenati MJ,VonKap-Herr C,Jackle B,et al.Rapid interphase analysis for prenatal diagnosis of transtocation carriers using subtelomeric probes.Prenat Diagn,2002,22:193-197.
  • 5Lim HJ,Kim YJ,Yang JH,et al.Amniotic fluid interphase fluorescence in situ hybridization (FISH) for detection of aneuploidy; experiences in 130 prenatal cases.J Korean Med Sci,2002,17:589-592.
  • 6Baart EB,Martini E,Van Opstal D.Screening for aneuploidies of ten different chromosomes in two rounds of FISH:A short and reliable protocol.Prenat Diagn,2004,24:955-961.
  • 7Shaffer LG,Bui TH.Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis.Am J Hum Genet,2007,145:87-98.
  • 8Lichter P,Joos S,Bentz M,et al.Comparative genomic hybridization:uses and limitations,Semin.Hematol,2000,37:348-357.
  • 9Lander ES,Linton LM,Birren B,et al.Initial sequencing and analysis of the human genome.Nature,2001,409,0-921.
  • 10Ylstra B,van den ljssel P,Carvalho B,et al.BAC to the future! or oligonucleotides:a perspective for micro array comparative genomic hybridization (array CGH).Nucleic Acids Res,2006,34:445-450.

二级参考文献19

  • 1陈雯,Liselotte Mettlter.用荧光原位杂交技术研究人类未受精卵细胞的染色体非整倍体[J].中华医学遗传学杂志,2004,21(3):203-206. 被引量:4
  • 2Yasuhide Yamashita,Kazuhiro Nishida,Takashi Okuda,Kenichi Nomura,Yosuke Matsumoto,Shoji Mitsufuji,Shigeo Horiike,Hiroyuki Hata,Chohei Sakakura,Akio Hagiwara,Hisakazu Yamagishi,Masafumi Taniwaki.Recurrent chromosomal rearrangements at bands 8q24 and 11q13 in gastric cancer as detected by multicolor spectral karyotyping[J].World Journal of Gastroenterology,2005,11(33):5129-5135. 被引量:4
  • 3Jacobs P, Hassold T. Chromosome abnormalities: origin and etiology in abortions and livebirths. Hum Genet,1987,76∶233-244.
  • 4Mahmood R, Brierley CH, Faed MJ, et al. Mechanisms of maternal aneuploidy: FISH analysis of oocytes and polar bodies in patients undergoing assisted conception. Hum Genet, 2000, 106∶620-626.
  • 5Kamiguchi Y, Mikamo K. An improved, efficient method for analyzing human chromosomes using zona-free hamster ova. Am J Hum Genet,1986,38∶724-740.
  • 6Sandalinas M, Marquez C, Munne S. Spectral karyotyping of fresh, non-inseminated oocytes. Mol Hum Reprod,2002,8∶580-585.
  • 7Pellestor F, Andreo B, Arnal F, et al. Mechanisms of non-disjunction in human female meiosis: the co-existence of two modes of malsegregation evidenced by the karyotyping of 1397 in-vitro unfertilized oocytes. Hum Reprod, 2002,17∶2134-2145.
  • 8Dailey T, Dale B, Cohen J, et al. Association between nondisjunction and maternal age in meiosis-II human oocytes. Am J Hum Genet, 1996, 59∶176-184.
  • 9Cupisti S, Conn CM, Fragouli E, et al. Sequential FISH analysis of oocytes and polar bodies reveals aneuploidy mechanisms. Prenat Diagn, 2003, 23∶663-668.
  • 10Schrck E, Manoir S, Veldman T, et al. Multicolor spectral karyotyping of human chromosomes. Science, 1996, 273∶494-497.

共引文献17

同被引文献69

  • 1顾芳,秦宜德,罗欣.细胞凋亡检测方法的研究进展[J].医学信息(医学与计算机应用),2014,0(10):517-518. 被引量:3
  • 2韩美艳,俞冬熠,姜楠,任慧颖.影响羊水细胞培养成功率因素的分析[J].中国产前诊断杂志(电子版),2014,6(3):42-45. 被引量:8
  • 3化爱玲,张月莲,郑梅玲,张桂林.孕中期羊水细胞染色体核型分析在产前诊断中的应用[J].中国优生与遗传杂志,2007,15(1):34-35. 被引量:8
  • 4李琳.染色体臂间倒位的遗传效应分析[J].中华医学遗传学杂志,2007,24(4):487-488. 被引量:17
  • 5Steele MW. Breg WR Jr. Chromosome analysis of humanamniotic-fluid cell. Lancet, 1966,1:383-385.
  • 6Morales C,Cuatrecasas E, Mademont-Soler I,et al. Non-mosaictrisomy 20 of paternal origin in chorionic villus and amniotic fluidalso detected in fetal blood and other tissues. Eur J Med Genet,2010,53:197-200.
  • 7陆国辉,陈天健,黄尚志,等产前诊断及其在国内应用的分析[J].中国优生与遗传杂志,2003,11:1-7.
  • 8HR Slater, DL Bruno, H Pertile, et al. Rapid, high throughputprenatal detection of aneuploidy using a novel quantitative method (MLPA) [J].J Med Genet, 2003,40:907-912.
  • 9Gekas J, van den Berg DG, Durand A, et al. Rapid testing versus karyotyping in Down' s syndrome screening :cost-effectiveness and detection of clinically significant chromosome abnormalities[J]. Eur J Hum Genet, 2011,19 ..3-9.
  • 10Benn P, Cuck/e H, Pergament E.Non-invasive prenatal testing for aneuploidy :current status and future prospects[J].Ultrasound Obstet Gynecol, 2013, 42:15-33.

引证文献12

二级引证文献32

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部