Fertility and Sterility
Volume 94, Issue 4 , Pages 1173-1177 , September 2010

The use of arrays in preimplantation genetic diagnosis and screening

  • Joyce C. Harper, Ph.D.

      Affiliations

    • Reader in Human Genetics and Embryology, University College London Centre for Preimplantation Genetics and Diagnosis, Institute for Women's Health, University College London and Centre for Reproductive and Genetic Health, Institute for Women's Health, University College London Hospital, London, United Kingdom
    • Corresponding Author InformationReprint requests: Joyce Harper, UCL Centre for PG & D, Institute for Women's Health, University College London, 86-96 Chenies Mews, London, WC1E 6HX, England (FAX: 00-44-207-383-7429).
    • ,
  • Gary Harton, B.S.

      Affiliations

    • Preimplantation Genetic Diagnosis, Genetics & IVF Institute, Fairfax, Virginia

Received 11 November 2009 ,Revised 20 April 2010 ,Accepted 26 April 2010.

References 

  1. Handyside AH, Kontogianni EH, Hardy K, Winston RML. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;244:768–770
  2. Harper JC. Preimplantation genetic diagnosis. Cambridge: Cambridge University Press; 2009;
  3. Goossens V, Harton G, Moutou C, Traeger-Synodinos J, Van Rij M, Harper JC. ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007. Hum Reprod. 2009;24:1786–1810
  4. Verlinsky Y, Cieslak J, Freidine M, Ivakhnenko V, Wolf G, Kovalinskaya L, et al. Pregnancies following pre-conception diagnosis of common aneuploidies by fluorescent in-situ hybridization. Hum Reprod. 1995;10:1923–1927
  5. Munné S, Dailey T, Sultan KM, Grifo J, Cohen J. The use of first polar bodies for preimpantation diagnosis of aneuploidy. Hum Reprod. 1995;10:1015–1021
  6. Staessen C, Verpoest W, Donoso P, Haentjens P, Van der Elst J, Liebaers I, et al. Preimplantation genetic screening does not improve delivery rate in women under the age of 36 following single-embryo transfer. Hum Reprod. 2008;23:2818–2825
  7. Meyer LR, Klipstein S, Hazlett WD, Nasta T, Mangan P, Karande VC. A prospective randomized controlled trial of preimplantation genetic screening in the “good prognosis” patients. Fertil Steril. 2009;91:1731–1738
  8. Jansen RPS, Bowman MC, de Boer KA, Leigh DA, Lieberman DB, McArthur SJ. What next for preimplantation genetic screening (PGS)? Experience with blastocyst biopsy and testing for aneuploidy. Hum Reprod. 2008;23:1476–1478
  9. Mersereau JE, Pergament E, Zhang X, Milad MP. Preimplantation genetic screening to improve in vitro fertilization pregnancy rates: a prospective randomized controlled trial. Fertil Steril. 2008;90:1287–1288
  10. Blockeel C, Schutyser V, De Vos A, Verpoest W, De Vos M, Staessen C, et al. Prospectively randomised controlled trial of PGS in IVF/ICSI patients with poor implantation. Reprod Biomed Online. 2008;17:848–854
  11. Staessen C, Platteau P, Van Assche E, Michiels A, Tournaye H, Camus M, et al. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled trial. Hum Reprod. 2004;19:2849–2858
  12. Stevens J, Wale P, Surrey ES, Schoolcraft WB, Gardner DK. Is aneuploidy screening for patients aged 35 or over beneficial? A prospective randomized trial. Fertil Steril. 2004;82:S249–S249
  13. Debrock S, Melotte C, Spiessens C, Peeraer K, Vanneste E, Meeuwis L, et al. Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial. Fertil Steril. 2010;93:364–373
  14. Hardarson T, Hanson C, Lundin K, Hillensjö T, Nilsson L, Stevic J, et al. Preimplantation genetic screening in women of advanced maternal age caused a decrease in clinical pregnancy rate: a randomised controlled trial. Hum Reprod. 2008;23:2806–2812
  15. Mastenbroek S, Twisk M, van Echten-Arends J, Sikkema-Raddatz B, Korevaar JC, Verhoeve HR, et al. In vitro fertilization with preimplantation genetic screening. N Engl J Med. 2007;357:9–17
  16. Schoolcraft WB, Katz-Jaffe MG, Stevens J, Rawlins M, Munne S. Preimplantation aneuploidy testing for infertile patients of advanced maternal age: a randomized prospective trial. Fertil Steril. 2009;92:57–62
  17. Harper JC, Coonen E, Handyside AH, et al. Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos. Prenat Diagn. 1995;15:41–49
  18. Munné S, Sultan KM, Weier HU, et al. Assessment of numeric abnormalities of X, Y, 18, and 16 chromosomes in preimplantation human embryos before transfer. Am J Obstet Gynecol. 1995;172:1191–1199
  19. Kallioniemi A, Kallioniemi OP, Sudan D. Comparative genomic hybridisation for molecular cytogenetic analysis of solid tumours. Science. 1992;258:818–821
  20. Telenius H, Carter NP, Bebb CE, Nordenskjöld M, Ponder BA, Tunnacliffe A. Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. Genomics. 1992;13:718–725
  21. Hu DG, Webb G, Hussey N. Aneuploidy detection in single cells using DNA array-based comparative genomic hybridization. Mol Hum Reprod. 2004;10:283–289
  22. Zhang L, Cui X, Schmitt K, Hubert R, Navidi W, Arnheim N. Whole genome amplification from a single cell: implications for genetic analysis. Proc Natl Acad Sci U S A. 1992;89:5847–5851
  23. Dietmaier W, Hartmann A, Wallinger S, Heinmoller E, Kerner T, Endl E, et al. Multiple mutation analyses in single tumor cells with improved whole genome amplification. Am J Pathol. 1999;154:83–95
  24. Dean FB, Hosono S, Fang L, et al. Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci U S A. 2002;99:5261–5266
  25. LeCaignec C, Spits C, Sermon K, De Rycke M, Thienpont B, Debrock S, et al. Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res. 2006;34:e68
  26. Fiegler H, Geigl JB, Langer S, Rigler D, Porter K, Unger K, et al. High resolution array-CGH analysis of single cells. Nucleic Acids Res. 2007;35:e15
  27. Wilton L, Voullaire L, Sargeant P, Williamson R, McBain J. Preimplantation aneuploidy screening using comparative genomic hybridization of fluorescence in situ hybridization of embryos from patients with recurrent implantation failure. Fertil Steril. 2003;80:860–868
  28. Hellani A, Coskun S, Tbakhi A, Al-Hassan S. Clinical application of multiple displacement amplification in preimplantation genetic diagnosis. Reprod Biomed Online. 2005;10:376–380
  29. Renwick PJ, Lewis CM, Abbs S, Ogilvie CM. Determination of the genetic status of cleavage-stage human embryos by microsatellite marker analysis following multiple displacement amplification. Prenat Diagn. 2007;27:206–215
  30. Lledo B, Ten J, Galan FM, Bernabeu R. Preimplantation genetic diagnosis of Marfan syndrome using multiple displacement amplification. Fertil Steril. 2006;86:949–955
  31. Burlet P, Frydman N, Gigarel N, et al. Multiple displacement amplification improves PGD for fragile X syndrome. Mol Hum Reprod. 2006;12:647–652
  32. Ren Z, Zhou C, Xu Y, Deng J, Zeng H, Zeng Y. Mutation and haplotype analysis for Duchenne muscular dystrophy by single cell multiple displacement amplification. Mol Hum Reprod. 2007;13:431–436
  33. Fiegler H, Redon R, Andrews D, Scott C, Andrews R, Carder C, et al. Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res. 2006;16:1566–1574
  34. Vanneste E, Voet T, Le Caignec C, Ampe M, Konings P, Melotte C, et al. Chromosome instability is common in human cleavage-stage embryos. Nat Med. 2009;15:577–583
  35. Wells D, Escudero T, Levy B, Hirschhorn K, Delhanty JD, Munné S. First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril. 2002;78:543–549
  36. 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;345:1537–1541
  37. Schoolcraft WB, Fragouli E, Stevens J, Munne S, Katz-Jaffe MG, Wells D. Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril. 2009;[Epub ahead of print]
  38. Hellani A, Abu-Amero K, Azouri J, El-Akoum S. Successful pregnancies after application of array-comparative genomic hybridization in PGS-aneuploidy screening. Reprod Biomed Online. 2008;17:841–847
  39. Handyside AH, Harton G, Mariani B, Thornhill AR, Affara NA, Shaw MA, et al. Karyomapping: a universal method for genome crossovers between parental haplotypes wide analysis of genetic disease based on mapping. J Med Genet. 2009;[Epub ahead of print]
  40. Treff NR, Su J, Mavrianos J, Bergh PA, Miller KA, Scott RT. Accurate 23 chromosome aneuploidy screening in human blastomeres using single nucleotide polymorphism (SNP) microarrays. Fertil Steril. 2007;86:S217
  41. Kearns WG, Pen R, Benner A, Kittai A, Widra E, Leach R. SNP microarray genetic analyses to determine 23-chromosome ploidy, structural chromosome aberrations and genome-wide scans to identify disease risks from a single embryonic cell. Fertil Steril. 2008;90:S23
  42. Harper JC, Sermon K, Geraedts J, et al. What next for preimplantation genetic screening. Hum Reprod. 2008;23:478–480
  43. Harper JC, Coonen E, De Rycke M, Geraedts J, Goosens V, Harton G, et al. What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium steering committee. Hum Reprod. 2010;25:821–823
  44. Munné S, Gianaroli L, Tur-Kaspa I, Magli C, Sandalinas M, Grifo J, et al. Substandard application of preimplantation genetic screening may interfere with its clinical success. Fertil Steril. 2007;88:781–784
  45. Geraedts J, Collins J, Devroey P, Gianaroli L, Goossens V, Handyside A, et al. What next for preimplantation genetic screening? A polar body approach!. Hum Reprod. 2010;25(3):575–577

 Edward E. Wallach, M.D.Associate Editor

 J.C.H. has nothing to disclose. G.H. has nothing to disclose.

 Dr. Harton's present address: Reprogenetics, 3 Regent Street, Suite 301, Livingston, NJ 07039.

PII: S0015-0282(10)00702-8

doi: 10.1016/j.fertnstert.2010.04.064

Fertility and Sterility
Volume 94, Issue 4 , Pages 1173-1177 , September 2010

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