Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
권호 표지

Clinical Application of Preimplantation Genetic Diagnosis (PGD)

착상전 유전진단 (Preimplantation Genetic Diagnosis)의 임상적 적용

  • Kim, Jin-Yeong (Department of Obstetrics and Gynecology, Cheil General Hospital, Kwandong University College of Medicine) ;
  • Kang, Inn-Soo (Department of Obstetrics and Gynecology, Cheil General Hospital, Kwandong University College of Medicine)
  • 김진영 (관동대학교 의과대학 제일병원 산부인과) ;
  • 강인수 (관동대학교 의과대학 제일병원 산부인과)
  • Published : 2008.03.30
Download PDF
⟨ Previous Next ⟩

Abstract

Keywords

References

  1. Hardy K, Martin KL, Leese HJ, Winston RML, Handyside AH. Human preimplantation development in vitro is not adversely affected by biopsy at the 8-cell stage. Hum Reprod 1990; 5(6): 708-14 https://doi.org/10.1093/oxfordjournals.humrep.a137173
  2. Griffin DK, Handyside AH, Penketh RJA, Winston RML, Delhanty JDA. Fluorescent in situ hybridization to interphase nuclei of human pre-implantation embryos with X and Y chromosome specific probes. Hum Reprod 1991; 6: 101-5 https://doi.org/10.1093/oxfordjournals.humrep.a137241
  3. Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990; 344: 768-70 https://doi.org/10.1038/344768a0
  4. Verlinsky Y, Cieslak J, Ivakhnenko V, Lifchez A, Storm C, Kuliev A, et al. Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis. Fertil Steril 1996; 66: 126-9 https://doi.org/10.1016/S0015-0282(16)58399-X
  5. Sermon KD, Michiels A, Harton G, Moutou C, Repping S, Scriven PN, et al. ESHRE PGD consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004. Hum Reprod 2007; 22(2): 323-36 https://doi.org/10.1093/humrep/del402
  6. Handyside A, Lesko J, Tarin J, Winston R, Hughs M. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med 1992; 327: 905-9 https://doi.org/10.1056/NEJM199209243271301
  7. Ao A, Wells D, Handyside A, Winston R, Delhanty J. Preimplantation genetic diagnosis of inherited cancer: familial adenomatous polyposis coli. J Assist Reprod Genet 1998; 15: 140-4 https://doi.org/10.1023/A:1023008921386
  8. Findlay I, Ray P, Quirke P, Rutherford A, Lilford R. Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Hum Reprod 1995; 10(6): 1609-18 https://doi.org/10.1093/HUMREP/10.6.1609
  9. Dreesen J, Jacobs L, Bras M, Herbergs J, Dumoulin JC, Geraedts JP, et al. Multiplex PCR of polymorphic markers flanking the CFTR gene: a general approach for preimplantation genetic diagnosis of cystic fibrosis. Mol Hum Reprod 2000; 6: 391-6 https://doi.org/10.1093/molehr/6.5.391
  10. Kuliev A, Rechitsky S, Verlinsky O, Ivakhnenko V, Cieslak J, Evsikov S, et al. Birth of healthy children after preimplantation genetic diagnosis of thalassemias. J Assist Reprod Genet 1999; 16: 207-11 https://doi.org/10.1023/A:1020316924064
  11. Kanavakis E, Vrettou C, Palmer G, Tretis M, Mastrominas M, Traeger-Synodinos J. Preimplantation genetic diagnosis in 10 couples at risk for transmitting $\beta$-thalassemia major: clinical experience including the initiation of six singleton pregnancies. Prenat Diagn 1999; 19: 1217-22 https://doi.org/10.1002/(SICI)1097-0223(199912)19:13<1217::AID-PD723>3.0.CO;2-2
  12. Van de Valde H, Sermon K, De Vos A, Lissens W, Joris H, Vandervorst M, et al. Fluorescent PCR and automated fragment analysis in Preimplantation genetic diagnosis for 21- hydroxylase deficiency in congenital adrenal hyperplasia. Mol Hum Reprod 1999; 5: 691-6 https://doi.org/10.1093/molehr/5.7.691
  13. Sermon K, Lissens W, Messiaen L, Bonduelle M, Vandervorst M, Van Steirteghem A, et al. Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA Sequencer. Fertil Steril 1999; 71: 163-5 https://doi.org/10.1016/S0015-0282(98)00412-9
  14. Ray PF, Gigarel N, Bonnefont JP, Attie T, Hamamah S, Frydman N, et al. First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency. Prenat Diagn 2000; 20: 1048-54 https://doi.org/10.1002/1097-0223(200012)20:13<1048::AID-PD975>3.0.CO;2-8
  15. 이형송, 최혜원, 임천규, 민동미, 변혜경, 김진영, 등. Ornithine transcarbamylase (OTC) 효소 결핍증, 수포성 표 피박리증 및 lactic acidosis 가계에서 duplex nested PCR 방법을 이용한 착상전 유전진단: OTC 효소 결핍증 가 계에서의 정상아 임신 및 출산. 대한산부회지 2004; 47(4): 708-17
  16. Ray P, Vekemans M, Munnich A. Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination. Mol Hum Reprod 2001; 7: 489-94 https://doi.org/10.1093/molehr/7.5.489
  17. 이형송, 최혜원, 임천규, 박소연, 김진영, 궁미경, 등. 근이영양증에 대한 착상전 유전진단에서 duplex-nested PCR과 fluorescent PCR방법의 효용성. 대한불임학회지 2005; 32(1): 17-26
  18. Georgiou I, Sermon K, Lissens W, De Vos A, Platteau P, Lolis D, et al. Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA). Hum Genet 2001; 108: 494-8 https://doi.org/10.1007/s004390100534
  19. Harper J, Wells D, Piyamongkol W, Abou-Sleiman P, Apessos A, Ioulianos A, et al. Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders. Prenat Diagn 2002; 22: 525-33 https://doi.org/10.1002/pd.394
  20. De Vos A, Sermon K, De Rijcke M, Goossens V, Henderix P, Van Ranst N, et al. Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A. Mol Hum Reprod 2003; 9: 429-35 https://doi.org/10.1093/molehr/gag054
  21. Fiorentino F, Magli MC, Podini D, Ferraretti AP, Nuccitelli A, Vitale N, et al. The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders. Mol Hum Reprod 2003; 9: 399-410 https://doi.org/10.1093/molehr/gag046
  22. Moutou C, Rongieres C, Bettahar-Lebugle K, Gardes N, Philippe C, Viville S. Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties. Hum Reprod 2003; 18: 509-14 https://doi.org/10.1093/humrep/deg123
  23. Rechitsky S, Verlinsky O, Chistokhina A, Sharapova T, Ozen S, Masciangelo C, et al. Preimplantation genetic diagnosis for cancer predisposition. Reprod BioMed Online 2002; 4: 148-55
  24. Zenes MT, Casper RF. Cytogenetics of human oocytes, zygotes, and embryos after in vitro fertilization. Hum Genet 1992; 88: 367-75 https://doi.org/10.1007/BF00215667
  25. Delhanty JD, Griffin DK, Handyside AH, Harper J, Atkinson GH, Pieters MH, et al. Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridization.Hum Mol Genet 1993; 2: 1183-5 https://doi.org/10.1093/hmg/2.8.1183
  26. Munne S, Lee A, Rosenwaks Z, Grifo J, Cohen J. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod 1993; 8: 2185-91 https://doi.org/10.1093/oxfordjournals.humrep.a138001
  27. Marquez C, Sandalina M, Bahce M, Alikani M, Munne S. Chromosome abnormalities in 1255 cleavage-stage human embryos. Reprod Biomed Online. 2000; 1(1): 17-26 https://doi.org/10.1016/S1472-6483(10)61988-8
  28. Munne S, Cohen J, Sable D. Preimplantation genetic diagnosis for advanced maternal age and other indications. Fertil Steril 2002; 78: 234-6 https://doi.org/10.1016/S0015-0282(02)03239-9
  29. Munne S, Magli C, Cohen J, Morton P, Sadowy S, Gianaroli L, et al. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod 1999; 14(9): 2191-9 https://doi.org/10.1093/humrep/14.9.2191
  30. Rubio C, Simon C, Vidal F, Rodrigo L, Pehlivan T, Remohi J, et al. chromosomal abnormalities and embryo development in recurrent miscarriage couples. Hum Reprod 2003; 18: 182-8 https://doi.org/10.1093/humrep/deg015
  31. Kahraman S, Benkhalifa M, Donmez E, Biricik A, Sertyel S, Findikli N, et al. The results of aneuploidy screening in 276 couples undergoing assisted reproductive techniques. Prenat Diagn 2004; 307-11
  32. Staessen C, Tournaye H, Van Assche E, Michiels A, Van Landuyt L, Devroey P, et al. PGD in 47, XXY Klinefelter's syndrome patients. Hum Reprod 2003; 9(4): 319-30 https://doi.org/10.1093/humupd/dmg029
  33. Verlinsky Y, Rechitsky S, Verlinsky O, Masciangelo C, Lederer K, Kuliev A. Preimplantation diagnosis for early-onset Alzheimer disease caused by V717L mutation. JAMA 2002; 287: 1018-21 https://doi.org/10.1001/jama.287.8.1018
  34. Verlinsky Y, Rechitsky S, Schoolcraft W, Storm C, Kuliev A. Preimplantation genetic diagnosis for Fanconi anemia combined with HLA matching. JAMA 2001; 285: 3130-3133 https://doi.org/10.1001/jama.285.24.3130
  35. Rechitsky S, Kuliev A, Tur-Kaspa I, et al. Preimplantation HLA typing with preimplantation genetic diagnosis. Reprod Biomed Online 2004; 6: 488-93 https://doi.org/10.1016/S1472-6483(10)62172-4
  36. Rechitsky S, Strom C, Verlinsky O, Amet T, Ivakhnenko V, Kukharenko V, et al. Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes. J Assist Reprod Genet 1999; 16: 192-8 https://doi.org/10.1023/A:1020312823155
  37. De Vos A, Van Steirteghem A. Aspects of biopsy procedures prior to preimplantation genetic diagnosis. Prenat Diagn 2001; 21: 767-80
  38. Van de Velde H, De Vos A, Sermon K, Staessen C, De Rycke M, Van Assche E, et al. Embryo implantation after biopsy of one or two cells from cleavage-stage embryos with a view to preimplantation genetic diagnosis. Prenat Diagn 2000; 20: 1030-7 https://doi.org/10.1002/1097-0223(200012)20:13<1030::AID-PD977>3.0.CO;2-D
  39. ESHRE PGD consortium Steering Committee. ESHRE preimplantation genetic diagnosis consortium: Preliminary assessment of data from January 1997 to September 1998. Hum Reprod 1999; 14: 3138-48 https://doi.org/10.1093/humrep/14.12.3138
  40. Veiga A, Sandalinas M, Benkhalifa M, Boada M, Carrera M, Santalo J, et al. Laser blastocyst biopsy for preimplantation diagnosis in the human. Zygotes 1997; 5: 351-4 https://doi.org/10.1017/S0967199400003920
  41. de Boer KA, Catt JW, Jansen RPS, Leigh D, McArther S. Moving to blastocyst biopsy for preimplantation genetic diagnosis and single embryo transfer at Sydney IVF. Fertil Steril 2004; 82: 295-8 https://doi.org/10.1016/j.fertnstert.2003.11.064
  42. Kokkali G, Vrettou C, Traeger-Synodinos J, Jones GM, Cram DS, Stavrou D, et al. Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of $\beta$- thalassemia major: case report. Hum Reprod 2005; 20(7):1855-9 https://doi.org/10.1093/humrep/deh893
  43. Gardner DK, Vella P, Lane M, Wagley L, Schlenker T, Schoolcraft WB. Culture and transfer of human blastocysts increases implantation rates and reduces the need for multiple embryo transfers. Fertil Steril 1998; 69: 84-8 https://doi.org/10.1016/S0015-0282(97)00438-X
  44. Wilton L. Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review. Prenat Diagn 2002; 22: 312-8
  45. Munne S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J. Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril 2000; 73: 1209-18 https://doi.org/10.1016/S0015-0282(00)00495-7
  46. Munne S, Sandalinas M, Escudero T, Marquez C, Cohen J. Chromosome mosaicism in cleavage-stage human embryos: evidence of a maternal age effect. Repro BioMed Online 2003; 4: 223-32
  47. Harton GL, Tsipouras P, Sisson ME, Starr KM, Mahoney BS, Fugger EF, et al. Preimplantation genetic testing for Marfan syndrome. Mol Hum Reprod 1996; 2(9): 713-5 https://doi.org/10.1093/molehr/2.9.713
  48. Lee SH, Kwak IP, Cha KE, Park SE, Kim NK, Cha KY. Preimplantation diagnosis of non-deletion Duchenne muscular dystrophy (DMD) by linkage polymerase chain reaction analysis. Mol Hum Reprod 1998; 4(4): 345-9 https://doi.org/10.1093/molehr/4.4.345
  49. Pertl B, Weitgasser U, Kopp S, Kroisel PM, Sherlock J, Adinolfi M. Rapid detection of trisomy 21 and 18 and sexing with quantitative fluorescent multiplex PCR. Hum Genet 1996; 98: 55-9 https://doi.org/10.1007/s004390050159
  50. Burlet P, Frydman N, Gigarel N, Kerbrat V, Tachdjian G, Feyereisen E, et al. Multiple displacement amplification improves PGD for fragile X syndrome. Mol Hum Reprod 2006; 12: 647-52 https://doi.org/10.1093/molehr/gal069
  51. 김민지, 이형송, 임천규, 조재원, 김진영, 궁미경, 등. 삼핵산 반복서열 질환인 헌팅톤병, 척수소뇌성 운동실 조증, X-염색체 취약 증후군의 착상전 유전진단 방법 에 대한 연구. 대한생식의학회지 2007; 34(3): 179-88
  52. Wilton L. Preimplantation genetic diagnosis and chromosome analysis of blastomeres using comparative genomic hybridizaiton. Hum Reprod Update 2005; 11(1): 33-41 https://doi.org/10.1093/humupd/dmh050
  53. Wilton L, Williamson R, McBain J, Edgar D, Voullaire L. Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N Engl J Med 2001; 345: 1537-41 https://doi.org/10.1056/NEJMoa011052
  54. Wilton L, Voullaire L, Sargeant P, Williammson and McBain J,et al. Preimplantation aneuploidy screening using comparative genomic hybridization or fluorescence in situ hybridisation of embryos from patients with recurrent implantation failure. Fertil Steril 2003; 80: 860-8 https://doi.org/10.1016/S0015-0282(03)01162-2
  55. Wells D, Escudero T, Levy B, Hirschhorn K, Delhanty J, Munne S. First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril 2002; 78: 543-9 https://doi.org/10.1016/S0015-0282(02)03271-5
  56. Voullaire L,Slater H, Williamson R, Wilton L. Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet 2000; 106: 210-17 https://doi.org/10.1007/s004390051030
  57. Hu DG, Webb G, Hussey N. Aneuploidy detection in single cells using DNA array-based comparative genomic hybridisation. Mol Hum Reprod 2004; 10: 283-9 https://doi.org/10.1093/humrep/gah038
  58. Joricho H, Wilton L, Gook D, Edgar D. A modified cryopreservation method increases the survival of human biopsied cleavage stage embryos. Hum Reprod 2003; 18: 568-71 https://doi.org/10.1093/humrep/deg106
  59. Kurg A, Tonisson N, Georgious I, Shumaker J, Tollett J,Metspalu A. Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology. Genet Test 2000; 4: 1-7 https://doi.org/10.1089/109065700316408
  60. Fiorentino F, Biricik A, Nuccitelli A, De Palma R, Kahraman S, Iacobelli M, et al. Strategies and clinical outcome of 250 cycles of preimplantation genetic diagnosis for single gene disorders. Hum Reprod 2006; 21(3): 670-84 https://doi.org/10.1093/humrep/dei382
  61. 이형송, 최혜원, 임천규, 민동미, 변혜경, 김진영, 등. Ornithine transcarbamylase 효소 결핍증, 수포성 표피박 리증 및 lactic acidosis 가계에서 duplex nested PCR 방법 을 이용한 착상전 유전진단: OTC 효소 결핍증 가계에 서의 정상아 임신 및 출산. 대한산부인과학회지 2004; 47(4): 708-18
  62. Rechitsky S. Preimplantation HLA typing with aneuploidy testing. Reprod Biomed Online 2006; 12(1): 89-100 https://doi.org/10.1016/S1472-6483(10)60986-8
  63. Munne S, Morrison L, Fung J, Marquez C, Weier U, Bahce M, et al. Spontaneous abortions are reduced after preconception diagnosis of translocations. J Assist Reprod Genet 1998; 15:290-6 https://doi.org/10.1023/A:1022544511198
  64. Lim CK, Jun JH, Min DM, Lee HS, Kim JY, Koong MK, Kang IS. Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience. Prenat Diagn 2004; 24: 556-61 https://doi.org/10.1002/pd.923
  65. 김진영, 임천규, 송인옥, 유근재, 양광문, 한국선, 등. 유전질환 및 염색체 이상의 예방을 위한 착상전 유전 진단의 결과. 대한불임학회지 2002; 29(4): 269-78
  66. Gianaroli L, Magli MC, Fiorentino F, Baldi M, Ferrareti AP. Clinical value of preimplantation genetic diagnosis. Placenta 2003; 24: S77-S83 https://doi.org/10.1053/plac.2002.0870
  67. Munne S, Chen S, Colls P, Garrisi J, Zheng X, Cekleniak N, et al. Maternal age, morphology, development and chromosome abnormalities in over 6000 cleavage stage embryos. Reprod Biomed online 2007; 15(5): 628-34
  68. Improved implantation after preimplantation genetic diagnosis of aneuploidy. Munne S, Sandalinas M, Escudero T, Velilla E, Walmsley R, Sadowy S, et al. Reprod Biomed Online 2003; 7(1): 91-7 https://doi.org/10.1016/S1472-6483(10)61735-X
  69. Mastenbroek S, Twisk M, Van Echten-Arends J, et al. In vitro fertilization with preimplantation genetic screening. NEJM 2007; 357: 9-17 https://doi.org/10.1056/NEJMoa067744
  70. Staessen C, Platteau P, Van Assche E, et al. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy in couples with advanced maternal age: a prospective randomized controlled trial. Hum Reprod 2004; 19: 2849-58 https://doi.org/10.1093/humrep/deh536
  71. Verlinsky Y, Tur-Kaspa I, Cieslak J, et al. Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis IVF patients. Reprod Biomed Online 2005; 11: 219-25 https://doi.org/10.1016/S1472-6483(10)60961-3