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Approaches to Preimplantation Diagnosis

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Practical Preimplantation Genetic Diagnosis

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Abstract

Introduced only in 1990 as an experimental procedure, preimplantation genetic diagnosis (PGD) is now becoming an established clinical option in reproductive medicine [1–3]. Thousands of apparently healthy children have been born after PGD, validating that there is no ostensible evidence of any incurred adverse effect. Over 100,000 PGD cases have presently been performed in more than 100 centers around the world, allowing at-risk couples not only to avoid producing offspring with genetic disorders but, more importantly, to have unaffected healthy babies of their own without facing the risk of pregnancy termination after traditional prenatal diagnosis. Without PGD it is likely that a few of these children would have been born.

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References

  1. Preimplantation Genetic Diagnosis International Society (PGDIS). Guidelines for good practice in PGD: program requirements and laboratory quality assurance. Reprod Biomed Online. 2008;16:134–47.

    Article  Google Scholar 

  2. Preimplantation Genetic Diagnosis International Society (PGDIS). 10th International congress on preimplantation genetic diagnosis. Reprod Biomed Online. 2010;20:S1–42.

    Google Scholar 

  3. Kuliev AM. Expanding indications for preimplantation genetic diagnosis. Expert Rev Obstet Gynecol. 2011;6:599–607.

    Article  Google Scholar 

  4. Handyside AH, Kontogiani EH, Hardy K, Winston RML. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344:768–70.

    Article  PubMed  CAS  Google Scholar 

  5. Verlinsky Y, Ginsberg N, Lifchez A, Valle J, Moise J, Strom CM. Analysis of the first polar body: preconception genetic diagnosis. Hum Reprod. 1990;5:826–9.

    PubMed  CAS  Google Scholar 

  6. International Working Group on Preimplantation Genetics. Current progress in preimplantation genetic diagnosis. J Assist Reprod Genet. 1993;10:353–60.

    Article  Google Scholar 

  7. International Working Group on Preimplantation Genetics. Preimplantation diagnosis of genetic and chromosomal disorders. J Assist Reprod Genet. 1994;11:236–43.

    Article  Google Scholar 

  8. Griffin DK, Handyside AH, Penketh RJA, Winston RML, Delhanty JDA. Fluorescent in-situ hybridization to interphase nuclei of human preimplantation embryos with X and Y chromosome specific probes. Hum Reprod. 1991;6:101–5.

    PubMed  CAS  Google Scholar 

  9. Griffin DK, Wilton LJ, Handyside AH, Winston RML, Delhanty JDA. Dual fluorescent in-situ hybridization for the simultaneous detection of X and Y chromosome specific probes for the sexing of human preimplantation embryonic nuclei. Hum Genet. 1992;89:18–22.

    Article  PubMed  CAS  Google Scholar 

  10. Munne S, Lee A, Rozenwaks Z, Grifo J, Cohen J. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod. 1993;8:2185–91.

    PubMed  CAS  Google Scholar 

  11. Munne S, Weier HUG, Stein J, Grifo J, Cohen J. A fast and efficient method for simultaneous X and Y in-situ hybridization of human blastomeres. J Assist Reprod Genet. 1993;10:82–90.

    Article  PubMed  CAS  Google Scholar 

  12. Delhanty JDA, Griffin DK, Handyside AH. Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation (FISH). Hum Mol Genet. 1993;2:1183–5.

    Article  PubMed  CAS  Google Scholar 

  13. Munné S, Weier HUG, Grifo J, Cohen J. Chromosome mosaicism in human embryos. Biol Reprod. 1994;51:373–9.

    Article  PubMed  Google Scholar 

  14. Verlinsky Y. Preimplantation genetic diagnosis. J Assist Reprod Genet. 1996;13:87–9.

    Article  PubMed  CAS  Google Scholar 

  15. International Working Group on Preimplantation Genetics. Current status of preimplantation diagnosis. J Assist Reprod Genet. 1997;14:72–5.

    Article  Google Scholar 

  16. Munne S, Morrison L, Fung J, et al. Spontaneous abortions are reduced after preconception diagnosis of translocations. J Assist Reprod Genet. 1998;15:290–6.

    Article  PubMed  CAS  Google Scholar 

  17. Verlinsky Y, Kuliev A. Preimplantation genetics. J Assist Reprod Genet. 1998;15:215–8.

    Article  PubMed  CAS  Google Scholar 

  18. Munne S, Wells D, Cohen J. Technology requirements for preimplantation genetic diagnosis to improve assisted reproduction outcomes. Fertil Steril. 2010;92:408–30.

    Article  Google Scholar 

  19. Treff NT, Levy B, Su J, Northrop LE, Tao X, Scott RT. SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent that FISH. Mol Hum Reprod. 2010;16:583–9.

    Article  PubMed  CAS  Google Scholar 

  20. Johnson DS, Gemelos G, Ryan A, et al. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum Reprod. 2010;25:1066–75.

    Article  PubMed  CAS  Google Scholar 

  21. Treff NT, Sue G, Tao X, Levy B, Scott RT. Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril. 2010;94:2017–21.

    Article  PubMed  CAS  Google Scholar 

  22. Gutierrez-Mateo C, Colls P, Sanchez-Garcia J, Escudero T, Prates R, Wells D, Munne S. Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril. 2011;95:953–8.

    Article  PubMed  CAS  Google Scholar 

  23. Fragouli E, Alfarawati S, Daphnis DD, et al. Cytogenetic analysis of human blastocyst with the use of FISH, CGH, and aCGH: scientific data and technical evaluation. Hum Reprod. 2011;26:480–90.

    Article  PubMed  CAS  Google Scholar 

  24. Kuliev A, Zlatopolsky Z, Kirillova I, Spivakova J, Cieslak-Janzen G. Meiosis errors in over 20,000 oocytes studied in the practice of preimplantation aneuploidy testing. Reprod Biomed Online. 2011;22:2–8.

    Article  PubMed  Google Scholar 

  25. Gabriel AS, Thornhill AR, Ottolini CS, et al. Array comparative genomic hybridization on first polar bodies suggests that non-disjunction is not the predominant mechanism leading to aneuploidy in humans. J Med Genet. 2011;48:433–7.

    Article  PubMed  CAS  Google Scholar 

  26. Geraedts J, Collins J, Gianaroli L, et al. What next for preimplantation genetic screening? A polar body approach. Hum Reprod. 2010;25:575–7.

    Article  PubMed  Google Scholar 

  27. European Society of Human Reproduction and Embryology (ESHRE). Abstracts of the 26th annual meeting of European Society of Human Reproduction and Embryology. Hum Reprod. 2010;25 Suppl 1.

    Google Scholar 

  28. Schoolcraft WB, Fragouli E, Stevens J, Munne S, Katz-Jaffe MG, Wells D. Clinical application of comprehensive chromosomal screening in the blastocyst stage. Fertil Steril. 2010;94:1700–6.

    Article  PubMed  Google Scholar 

  29. Scott RT, Tao X, Ferry KM, Treff NR. A prospective randomized controlled trial demonstrating significantly increased clinical pregnancy rates following 24 chromosome aneuploidy screening: biopsy on day 5 with fresh transfer. Fertil Steril. 2010;94 Suppl S2:O–05.

    Google Scholar 

  30. Munné S, Sandalinas M, Escudero T. Outcome of premplantation genetic diagnosis of translocations. Fertil Steril. 2000;73:1209–18.

    Article  PubMed  Google Scholar 

  31. ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium. Best practice guidelines for preimplantation genetic diagnosis/screening (PGD/PGS). Hum Reprod. 2011;26:14–46.

    Article  Google Scholar 

  32. Verlinsky Y, Tur-Kaspa I, Cieslak J, Bernal A, Morris R, Taranissi M, Kaplan B, Kuliev A. Preimplantation testing for chromosomal disorders improves reproductive outcome of poor prognosis patients. Reprod BioMed Online. 2005;11:219–25.

    Article  PubMed  CAS  Google Scholar 

  33. Kuliev A, Kuliev A, Cieslak Jansen J, Zlatopolski Z, et al. Conversion and Non-conversion approach to preimplantation diagnosis for chromosomal rearrangements in 475 cycles. Reprod BioMed Online. 2010;21:93–9.

    Article  PubMed  Google Scholar 

  34. The Practice Committee of the Society for Assisted Reproductive Technology and Practice Committee of the American Society for Reproductive Medecine. Preimplantation genetic testing: a practice committee opinion. Fertil Steril. 2007;88:1497–504.

    Article  Google Scholar 

  35. Munne S. Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod Biomed Online. 2002;4:183–96.

    Article  PubMed  Google Scholar 

  36. Verlinsky Y, Cieslak J, Evsikov S, Galat V, Kuliev A. Nuclear transfer for full karyotyping and preimplantation diagnosis of translocations. Reprod Biomed On­­line. 2002;5:302–7.

    Article  Google Scholar 

  37. Kuliev A, Verlinsky Y. Thirteen years’ experience of preimplantation diagnosis: report of the fifth international symposium on preimplantation genetics. Reprod Biomed Online. 2004;8:229–35.

    Article  PubMed  Google Scholar 

  38. International Working Group on Preimplantation Genetics. Preimplantation diagnosis: an integral part of assisted reproduction. Report of the 9th Annual Meeting International Working Group on Preimlantation Genetics, in association with the 11th IVF Congress. Sydney, May 10, 1999. J Assist Reprod Genet. 2000;16:161–4.

    Google Scholar 

  39. International Working Group on Preimplantation Genetics. 10th anniversary of preimplantation genetic diagnosis. Report of the 10th Annual Meeting of International Working Group on Preimlantation Genetics, in conjunction with 3rd International Symposium on Preimplantation Genetics. Bologna, June 23, 2000. J Assist Reprod Genet. 2001;18:66–72.

    Google Scholar 

  40. International Working Group on Preimplantation Genetics. Preimplantation genetic diagnosis – experience of three thousand clinical cycles. Report of the 11th Annual Meeting International Working Group on Preimlantation Genetics, in conjunction with 10th International Congress of Human Genetics. Vienna, May 15, 2001. Reprod BioMed Online. 2001;3:49–53.

    Google Scholar 

  41. Verlinsky Y, Munne S, Cohen J, et al. Over a decade of preimplantation genetic diagnosis experience – a multi-center report. Fertil Steril. 2004;82:292–4.

    Article  PubMed  Google Scholar 

  42. Verlinsky Y, Rechitsky S, Verlinsky O, et al. Preimplantation diagnosis for p53 tumor suppressor gene mutations. Reprod Biomed Online. 2001;2:102–5.

    Article  PubMed  CAS  Google Scholar 

  43. Verlinsky Y, Rechitsky S, Schoolcraft W, Strom C, Kuliev A. Preimplantation diagnosis for fanconi anemia combined with HLA matching. JAMA. 2001;285:3130–3.

    Article  PubMed  CAS  Google Scholar 

  44. Verlinsky Y, Rechitsky S, Sharapova T, Morris R, Tharanissi M, Kuliev A. Preimplantation HLA typing. JAMA. 2004;291:2079–208.

    Article  PubMed  CAS  Google Scholar 

  45. Kuliev A, Verlinsky Y. Current feature of preimplantation genetic disgnosis. Reprod Biomed Online. 2002;5:296–301.

    Article  Google Scholar 

  46. ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium. Data collecttion II. Hum Reprod. 2002;15:2673–83.

    Google Scholar 

  47. Liebaers I, Desmyttere S, Verpoest W, De Rycke M, Staessen C, Sermon K, Devroey P, Haentjens P, Bonduelle M. Report on a consecutive series of 581 children born after blastomere biopsy for preimplantation genetic diagnosis. Hum Reprod. 2010;25:275–82.

    Article  PubMed  CAS  Google Scholar 

  48. Verlinsky Y, Kuliev A. Atlas of preimplantation genetic diagnosis. New York, London: Parthenon; 2000.

    Google Scholar 

  49. Verlinsky Y, Milayeva S, Evsikov S, et al. Preconception and preimplantation diagnosis for cystic fibrosis. Prenat Diagn. 1992;12:103–10.

    Article  PubMed  CAS  Google Scholar 

  50. Verlinsky Y, Rechitsky S, Cieslak J, et al. Preimplantation diagnosis of single gene disorders by two-step oocyte analysis using first and second polar pody. Biochem Mol Med. 1997;62:182–7.

    Article  PubMed  CAS  Google Scholar 

  51. Kaplan B, Wolf G, Kovalinskaya L, Verlinsky Y, et al. Viability of embryos following second polar body removal in a mouse model. J Assist Reprod Genet. 1995;12:747–9.

    Article  PubMed  CAS  Google Scholar 

  52. Kuliev A, Rechitsky S, Laziuk K, Verlinsky O, Tur-Kaspa I, Verlinsky Y. Pre-embryonic diagnosis for Sandhoff disease. Reprod Biomed Online. 2006;12:328–33.

    Article  PubMed  CAS  Google Scholar 

  53. Kuliev A, Rechitsky S, Verlinsky O, Strom S, Verlinsky Y. Preembryonic diagnosis for sickle cell disease. Mol Cell Endocrinol. 2001;183:S19–22.

    Article  PubMed  CAS  Google Scholar 

  54. Larsen WJ. Human embryology. New York: Churchill Livingstone; 1994.

    Google Scholar 

  55. Willadsen S, Munne S, Schmmel T, Cohen J. Applications of nuclear sperm duplication. Fifth Internationa Symposium on Preimplantation Genetics. Antalya, 5–7 June, 2003. p. 35.

    Google Scholar 

  56. Munne S, Willadsen S, Schmmel T, Cohen J. Nuclear sperm duplication as a tool to study mosaicism. Fifth Internationa Symposium on Preimplantation Genetics. Antalya, 5–7 June, 2003. p. 55–6.

    Google Scholar 

  57. Lacham-Kaplan O, Daniels R, Trounson A. Fertilization of mouse oocytes using somatic cells as male germ cells. Reprod Biomed Online. 2001;3:205–11.

    Article  PubMed  Google Scholar 

  58. Tesarik J, Nagy ZP, Sousa M, et al. Fertilized oocytes reconstructed from patient’s somatic cell nuclei and donor ooplast. Reprod Biomed Online. 2001;2:160–4.

    Article  PubMed  Google Scholar 

  59. Galat V, Verlinsky Y. Haploidization of somatic cell nuclei by cytoplasm of human oocytes. Reprod Biomed Online. 2002;4 Suppl 2:48–9.

    Article  Google Scholar 

  60. Galat V, Ozen S, Rechitsky L, Verlinsky Y. Is haploidization by human mature oocytes real? Fifth Internationa Symposium on Preimplantation Genetics. Antalya, 5–7 June, 2003. p. 36–7.

    Google Scholar 

  61. McArthur S, Marshall J, Wright D, de Boer K. Successful pregnancies following blastocyst (day 5) biopsy and analysis for reciprocal and Robertsonial translocations. Fifth Internationa Symposium on Preimplantation Genetics. Antalya, 5–7 June, 2003. p. 33.

    Google Scholar 

  62. Mastenbroek S, Twisk M, Van Echten-Arends J, et al. In vitro fertilization with preimplantation genetic screening. NEJM. 2007;357:9–17.

    Article  PubMed  CAS  Google Scholar 

  63. Rechitsky S, Verlinsky O, Strom C, et al. Experience with single-cell PCR in preimplantation genetic diagnosis: how to avoid pitfalls. In: Hahn S, Holzgreve W, editors. Fetal cells in maternal blood. New developments for a new millennium. 11th fetal cell workshop. Basel: Karger; 2000. p. 8–15.

    Google Scholar 

  64. Rechitsky S, Verlinsky O, Amet T, et al. Reliability of preimplantation diagnosis for single gene disorders. Mol Cell Endocrinol. 2001;183:S65–8.

    Article  PubMed  CAS  Google Scholar 

  65. Verlinsky Y, Rechitsky S, Verlinsky O, Strom C, Kuliev A. Polar body based preimplantation diagnosis for X-linked genetic disorders. Reprod Biomed Online. 2002;4:38–42.

    Article  PubMed  CAS  Google Scholar 

  66. Rechitsky S, Strom C, Verlinsky O, et al. Allele drop out in polar bodies and blastemeres. J Assist Reprod Genet. 1998;15:253–7.

    Article  PubMed  CAS  Google Scholar 

  67. Rechitsky S, Strom C, Verlinsky O, et al. Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes. J Assist Reprod Genet. 1999;16:192–8.

    Article  PubMed  CAS  Google Scholar 

  68. Findlay I, Quirke P. Fluorescent polymerase chain reaction: part I. A new method allowing genetic diagnosis and DNA fingerprinting of single cells. Hum Reprod Update. 1996;2:137–52.

    Article  PubMed  CAS  Google Scholar 

  69. Kuliev A, Rechitsky S, Verlinsky O, et al. Birth of healthy children following preimplantation diagnosis for thalassemias. J Assist Reprod Genet. 1999;16:219–25.

    Article  Google Scholar 

  70. Rechitsky S, Verlinsky O, Kuliev A, Ozen S, Masciangelo C, Lifchez A, Verlinsky Y. Preimplantation genetic diagnsis for familial dysautonomia. Reprod Biomed Online. 2003;6:488–93.

    Article  PubMed  CAS  Google Scholar 

  71. Sermon K, Seneca S, De Rycke M, et al. PGD in the lab for triplet diseases-myotonic dystrophy, Huntington’s disease and Fragile-X syndrome. Mol Cell Endocrinol. 2001;183:S77–85.

    Article  PubMed  CAS  Google Scholar 

  72. Katz MG, Mansfield J, Gras L, Trounson A, Cram DS. Diagnosis of trisomy 21 in preimplantation embryos by single-cell DNA fingerprinting. Reprod Biomed Online. 2002;4:43–50.

    Article  PubMed  CAS  Google Scholar 

  73. Harper J, Wells D, Piyamongkol W, et al. Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders. Prenat Diagn. 2002;22:525–33.

    Article  PubMed  Google Scholar 

  74. Ray PF, Gigarel N, Bonnefont JP, Attie T, Hamamah S, Frydman N, Vekemans M, Frydman R, Munnich A. First specific preimplantation genetic diagnosis for ornithine transcarbamilase deficiency. Prenat Diagn. 2000;20:1048–54.

    Article  PubMed  CAS  Google Scholar 

  75. Verlinsky Y, Rechitsky S, Verlinsky O, Strom C, Kuliev A. Preimplantation diagnosis for long-chain 3-hydroxiacyl-CoA dehydrogenase deficiency. Reprod Biomed Online. 2001;2:17–9.

    Article  PubMed  CAS  Google Scholar 

  76. Renwick P, Trussler J, Braude P, Ogilvie CM. Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod Biomed Online. 2010;20:470–6.

    Article  PubMed  Google Scholar 

  77. Schrurs BM, Winston RML, Handyside AH. Preimplantation diagnosis of aneuploidy using fluorescent in-situ hybridization: evaluation using a chromosome 18-specific probe. Hum Reprod. 1993;8:296–301.

    PubMed  CAS  Google Scholar 

  78. Munne S, Magli MC, Bahce M, Fung J, Legator M, Morison L. Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22. Prenat Diagn. 1998;18:459–1466.

    Google Scholar 

  79. Bahce M, Cohen J, Munné S. Preimplantation genetic diagnosis of aneuploidy: were we looking at the wrong chromosomes? J Assist Reprod Genet. 1999;16:154–9.

    Article  Google Scholar 

  80. Gianaroli L, Magli MC, Ferraretti AP, Munne S. Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with poor prognosis: identification of the categories for which it should be proposed. Fertil Steril. 1999;72:837–44.

    Article  PubMed  CAS  Google Scholar 

  81. Munne S, Magli C, Cohen J, et al. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod. 1999;14:2191–9.

    Article  PubMed  CAS  Google Scholar 

  82. Munne S, Sandalinas M, Escudero T, et al. Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online. 2003;7:91–7.

    Article  PubMed  Google Scholar 

  83. Munné S, Alikani M, Tomkin G, Grifo J, Cohen J. Embryo morphology, developmental rates and maternal age are correlated with chromosome abnormalities. Fertil Steril. 1995;64:382–91.

    PubMed  Google Scholar 

  84. Harper JC, Coonen E, Handyside AH, et al. Mosaicism of autosomes and sex chromosomes in morphologically normal monospermic preimplantation human embryos. Prenat Diagn. 1994;15:41–9.

    Article  Google Scholar 

  85. Evsikov S, Cieslak J, Verlinsky Y. Survival of unbalanced translocations to blastocyst stage. Fertil Steril. 2000;74:672–6.

    Article  PubMed  CAS  Google Scholar 

  86. Dyban A, Fredine M, Severova E, Cieslac J, Wolf G, Kuliev A, Verlinsky Y. Detection of aneuploidy in human oocytes and corresponding first polar bodies using FISH. 7th International Conference on Early Prenatal Diagnosis. Jerusalem, May 22–27, 1994; (Abstract #97).

    Google Scholar 

  87. Dyban A, Fredine M, Severova E, et al. Detection of aneuploidy in human oocytes and corresponding first polar bodies by FISH. J Assist Reprod Genet. 1996;13:72–7.

    Article  Google Scholar 

  88. Munné S, Daily T, Sultan KM, Grifo J, Cohen J. The use of first polar bodies for preimplantation diagnosis of aneuploidy. Hum Reprod. 1995;10:1014–120.

    PubMed  Google Scholar 

  89. Verlinsky Y, Cieslak J, Freidine M, Ivakhnenko V, Wolf G, Kovalinskaya L, White M, Lifchez A, Kaplan B, Moise J, Ginsberg N, Strom C, Kuliev A. Pregnancies following pre-conception diagnosis of commom aneuploidies by fluorescent in-situ hybridization. Hum Reprod. 1995;10:1923–7.

    PubMed  CAS  Google Scholar 

  90. Verlinsky Y, Evsikov S. Karyotyping of human oocytes by chromosomal analysis of the second polar body. Mol Hum Reprod. 1999;5:89–95.

    Article  PubMed  CAS  Google Scholar 

  91. Verlinsky Y, Evsikov S. A simplified and efficient method for obtaining metaphase chromosomes from individual human blastomeres. Fertil Steril. 1999;72:1–6.

    Article  Google Scholar 

  92. Willadsen S, Levron J, Munne S, et al. Rapid visualization of metaphase chromosomes in single human blastomeres after fusion with in-vitro matured bovine eggs. Hum Reprod. 1999;14:470–4.

    Article  PubMed  CAS  Google Scholar 

  93. Tanaka A, Nagayoshi M, Awata S, Mawatari Y, Tanaka I, Kusunoki H. Preimplantation diagnosis of repeated miscarriage due to chromosomal translocations using metaphase chromosomes of a balstomere biopsied from 4–6 cell stage embryo. Fertil Steril. 2004;81:30–4.

    Article  PubMed  Google Scholar 

  94. Shkumatov A, Kuznyetsov V, Cieslak J, Ilkevitch Y, Verlinsky Y. Obtaining metaphase spreads from single blastomeres for PGD of choromosomal rearrangements. Reprod Biomed Online. 2007;14:498–503.

    Article  PubMed  Google Scholar 

  95. Brezina PR, Benner A, Rechitsky S, Kuliev A, Pomerantseva E, Pauling D, Kearns WG. Single-gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy: a novel approach in optimizing pregnancy outcome. Fertil Steril. 2011;95:1786.

    PubMed  Google Scholar 

  96. Treff NR, Northrop LE, Kasabwala K, Su J, Levy B, Scott RT. Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos. Fertil Steril. 2011;95:1606–1612.e2.

    Article  PubMed  CAS  Google Scholar 

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  1. Reproductive Genetics Institute, Chicago, Illinois, USA

    Anver Kuliev M.D., Ph.D.

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Kuliev, A. (2012). Approaches to Preimplantation Diagnosis. In: Practical Preimplantation Genetic Diagnosis. Springer, London. https://doi.org/10.1007/978-1-4471-4090-0_2

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