Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion

详细信息    查看全文

• 作者：Jinsong Gao (1)
  Congcong Liu (2)
  Fengxia Yao (2)
  Na Hao (2)
  Jing Zhou (2)
  Qian Zhou (2)
  Liang Zhang (3)
  Xinyan Liu (1)
  Xuming Bian (1)
  Juntao Liu (1)
  
• 关键词：Spontaneous abortion ; Aneuploidy ; Karyotyping ; Array ; based comparative genomic hybridization
• 刊名：Molecular Cytogenetics
• 出版年：2012
• 出版时间：December 2012
• 年：2012
• 卷：5
• 期：1
• 全文大小：183KB
• 参考文献：1. Zinaman MJ, Clegg ED, Brown CC, O'Connor J, Selevan SG: Estimates of human fertility and pregnancy loss. / Fertil Steril 1996, 65:503-09.
  2. Byrne JL, Ward K: Genetic factors in recurrent abortion. / Clin Obstet Gynecol 1994, 37:693-04. CrossRef
  3. Nagaishi MYT, Iinuma K, Shimomura K, Berend SA, Knops J: Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan. / J Obstet Gynaecol Res 2004, 30:237-41. CrossRef
  4. Lin CC, De Braekeleer M, Jamro H: Cytogenetic studies in spontaneous abortion: the Calgary experience. / Can J Genet Cytol 1985, 27:565-70.
  5. Greenwold N, Jauniaux E: Collection of villous tissue under ultrasound guidance to improve the cytogenetic study of early pregnancy failure. / Hum Reprod 2002, 17:452-56. CrossRef
  6. Gardner MR, Sutherland GR: Cytogenetics of spontaneous abortions and later pregnancy loss. In / Chromosome abnormalities and genetic counseling. 3rd edition. Edited by: Gardner MR, Sutherland GR. New York: Oxford University Press; 2004:343-45.
  7. Benkhalifa M, Kasakyan S, Clement P, Baldi M, Tachdjian G, Demirol A, Gurgan T, Fiorentino F, Mohammed M, Qumsiyeh MB: Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to growin vitro. / Prenat Diagn 2005, 25:894-00. CrossRef
  8. Bryndorf T, Christensen B, Vad M, Parner J, Brocks V, Philip J: Prenatal detection of chromosome aneuploidies by fluorescence in situ hybridization: experience with 2000 uncultured amniotic fluid samples in a prospective preclinical trial. / Prenat Diagn 1997, 17:333-41. CrossRef
  9. Bryndorf T, Christensen B, Vad M, Parner J, Carelli MP, Ward BE, Klinger KW, Bang J, Philip J: Prenatal detection of chromosome aneuploidies in uncultured chorionic villus samples by FISH. / Am J Hum Genet 1996, 59:918-26.
  10. Bruno DL, Burgess T, Ren H, Nouri S, Pertile MD, Francis DI, Norris F, Kenney BK, Schouten J, Andy Choo KH, / et al.: High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy. / Am J Med Genet A 2006, 140:2786-793.
  11. Diego-Alvarez D, Garcia-Hoyos M, Trujillo MJ, Gonzalez-Gonzalez C, Rodriguez de Alba M, Ayuso C, Ramos-Corrales C, Lorda-Sanchez I: Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages. / Hum Reprod 2005, 20:1235-243. CrossRef
  12. Jobanputra V, Sobrino A, Kinney A, Kline J, Warburton D: Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions. / Hum Reprod 2002, 17:1166-170. CrossRef
  13. Salman M, Jhanwar SC, Ostrer H: Will the new cytogenetics replace the old cytogenetics? / Clin Genet 2004, 66:265-75. CrossRef
  14. Hillman SC, Pretlove S, Coomarasamy A, McMullan DJ, Davison EV, Maher ER, Kilby MD: Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. / Ultrasound Obstet Gynecol 2011, 37:6-4. CrossRef
  15. Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, / et al.: High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. / Nat Genet 1998, 20:207-11. CrossRef
  16. Snijders AM, Nowak N, Segraves R, Blackwood S, Brown N, Conroy J, Hamilton G, Hindle AK, Huey B, Kimura K, / et al.: Assembly of microarrays for genome-wide measurement of DNA copy number. / Nat Genet 2001, 29:263-64. CrossRef
  17. Lee CN, Lin SY, Lin CH, Shih JC, Lin TH, Su YN: Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. / BJOG 2012, 119:614-25. CrossRef
  18. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, / et al.: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. / Am J Hum Genet 2010, 86:749-64. CrossRef
  19. Borovik CL PA, da Silva L, Krepischi-Santos A, Costa S, Rosenberg C: Array-CGH testing in spontaneous abortions with normal karyotypes. / Genet Mol Bio 2008, 31:416-22. CrossRef
  20. Menten B, Swerts K, Chiaie B, Janssens S, Buysse K, Philippé J, Speleman F: Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples. / BMC Med Genet 2009, 10:89-3. CrossRef
  21. Robberecht C, Schuddinck V, Fryns JP, Vermeesch JR: Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls. / Genet Med 2009, 11:646-54. CrossRef
  22. Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH, Lese Martin C: Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. / Am J Hum Genet 2004, 74:1168-174. CrossRef
  23. Shimokawa O, Harada N, Miyake N, Satoh K, Mizuguchi T, Niikawa N, Matsumoto N: Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with ‘normal-karyotypes. / Am J Med Genet A 2006, 140:1931-935.
  24. Zhang YX, Zhang YP, Gu Y, Guan FJ, Li SL, Xie JS, Shen Y, Wu BL, Ju W, Jenkins EC, / et al.: Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH. / Clin Genet 2009, 75:133-40. CrossRef
  25. Rajcan-Separovic E, Diego-Alvarez D, Robinson WP, Tyson C, Qiao Y, Harvard C, Fawcett C, Kalousek D, Philipp T, Somerville MJ, / et al.: Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss. / Hum Reprod 2010, 25:2913-922. CrossRef
  26. Rajcan-Separovic E, Qiao Y, Tyson C, Harvard C, Fawcett C, Kalousek D, Stephenson M, Philipp T: Genomic changes detected by array CGH in human embryos with developmental defects. / Mol Hum Reprod 2010, 16:125-34. CrossRef
  27. Xiang B, Zhu H, Shen Y, Miller DT, Lu K, Hu X, Andersson HC, Narumanchi TM, Wang Y, Martinez JE, / et al.: Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. / J Mol Diagn 2010, 12:204-12. CrossRef
  28. Lomax B, Tang S, Separovic E, Phillips D, Hillard E, Thomson T, Kalousek DK: Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetic analysis of spontaneous abortions. / Am J Hum Genet 2000, 66:1516-521. CrossRef
  29. Ballif BC, Kashork CD, Saleki R, Rorem E, Sundin K, Bejjani BA, Shaffer LG: Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization. / Prenat Diagn 2006, 26:333-39. CrossRef
  30. Liehr T: Rapid Prenatal Diagnostics in the Interphase Nucleus: Procedure and Cut-off Rates. / J Histochem Cytochem 2005, 53:289-91. CrossRef
  31. van de Wiel MA, Picard F, van Wieringen WN, Ylstra B: Preprocessing and downstream analysis of microarray DNA copy number profiles. / Brief Bioinform 2011, 12:10-1. CrossRef
  32. Pollack JR, Perou CM, Alizadeh AA, Eisen MB, Pergamenschikov A, Williams CF, Jeffrey SS, Botstein D, Brown PO: Genome-wide analysis of DNA copy-number changes using cDNA microarrays. / Nat Genet 1999, 23:41-6. CrossRef
  33. Hulten MA, Dhanjal S, Pertl B: Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. / Reproduction 2003, 126:279-97. CrossRef
  
• 作者单位：Jinsong Gao (1)
  Congcong Liu (2)
  Fengxia Yao (2)
  Na Hao (2)
  Jing Zhou (2)
  Qian Zhou (2)
  Liang Zhang (3)
  Xinyan Liu (1)
  Xuming Bian (1)
  Juntao Liu (1)
  
  1. Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Shuai Fu Yuan No.1, Dongdan, Beijing, 100730, People’s Republic of China
  2. Department of Molecular Genetics & Cytogenetics, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Shuai Fu Yuan No.1, Dongdan, Beijing, 100730, People’s Republic of China
  3. BioChain (Beijing) Science and Technology Inc., Beijing Economic-technological Development Area, No.7A, Yongchang North Rd, Beijing, 100176, People’s Republic of China
  
• ISSN：1755-8166

文摘

Background Array-based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications, and can overcome many of the limitations associated with classic cytogenetic analysis. However, its clinical use in spontaneous abortion needs comprehensive evaluation. We used aCGH to investigate chromosomal imbalances in 100 spontaneous abortions and compared the results with G-banding karyotyping and fluorescence in situ hybridization (FISH). Inconsistent results were verified by quantitative fluorescence PCR. Results Abnormalities were detected in 61 cases. aCGH achieved the highest detection rate (93.4%, 57/61) compared with traditional karyotyping (77%, 47/61) and FISH analysis (68.9%, 42/61). aCGH identified all chromosome abnormalities reported by traditional karyotyping and interphase FISH analysis, with the exception of four triploids. It also detected three additional aneuploidy cases in 37 specimens with ‘normal-karyotypes, one mosaicism and 10 abnormalities in 14 specimens that failed to grow in vitro. Conclusions aCGH analysis circumvents many limitations in traditional karyotyping or FISH. The accuracy and efficiency of aCGH in spontaneous abortions highlights its clinical usefulness for the future. As aborted tissues have the potential to be contaminated with maternal cells, the threshold value of detection in aCGH should be lowered to avoid false negatives.