Skip to main content

Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction

Part of the Methods in Molecular Biology book series (MIMB,volume 1885)

Abstract

Preimplantation genetic diagnosis (PGD) can be considered the earliest form of prenatal testing. It was first used in humans over 26 years ago. At its inception, PGD could only be performed for a limited number of genetic disorders. Technological advances in molecular biology and cytogenomics have been utilized in the field of PGD to greatly expand the spectrum of genetic disorders that can now be detected in early human embryos.

Key words

  • Preimplantation genetic diagnosis
  • PGD
  • PGT
  • PGT-A
  • PGT-M
  • PGT-SR
  • PGT-HLA
  • Single gene disorder
  • Biopsy
  • Blastomere
  • Trophectoderm
  • Mosaicism

This is a preview of subscription content, access via your institution.

Buying options

Protocol
USD   49.95
Price excludes VAT (USA)
  • DOI: 10.1007/978-1-4939-8889-1_2
  • Chapter length: 21 pages
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
eBook
USD   149.00
Price excludes VAT (USA)
  • ISBN: 978-1-4939-8889-1
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
Hardcover Book
USD   199.99
Price excludes VAT (USA)

Springer Nature is developing a new tool to find and evaluate Protocols. Learn more

Notes

  1. 1.

    Preimplantation genetic diagnosis (PGD) is the term traditionally applied. For aneuploidy, preimplantation genetic screening (PGS) is often used. However, preimplantation genetic testing (PGT) is now considered by WHO to be more appropriate [1]. The reason is that rarely does a confirmatory “test” follow PGD, and especially after interrogation for aneuploidy testing to increase pregnancy rates. That “screening” is a misnomer is increasingly recognized. Here we use the terms interchangeably given historical literature but accept that PGT is the term to be used going forward.

References

  1. Goossens V, Harton G, Moutou C et al (2009) ESHRE PGD consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007. Hum Reprod 24(8):1786–1810. https://doi.org/10.1093/humrep/dep059

    CAS  CrossRef  PubMed  Google Scholar 

  2. Verlinsky Y, Cohen J, Munne S et al (2004) Over a decade of experience with preimplantation genetic diagnosis: a multicenter report. Fertil Steril 82(2):292–294. https://doi.org/10.1016/j.fertnstert.2003.09.082

    CrossRef  PubMed  Google Scholar 

  3. Gardner RL, Edwards RG (1968) Control of the sex ratio at full term in the rabbit by transferring sexed blastocysts. Nature 218(5139):346–349

    CAS  CrossRef  Google Scholar 

  4. Modlinski J, Mclaren A (1980) A method for visualizing the chromosomes of the 2nd Polar body of the mouse egg. J Embryol Exp Morphol 60(Dec):93–97

    CAS  PubMed  Google Scholar 

  5. Dyban AP (1991) Experimental cytogenetics of preimplantation development. In: Verlinsky Y, Kuliev A (eds) Preimplantation genetics. Plenum Press, New York, pp 15–23

    CrossRef  Google Scholar 

  6. Steptoe PC, Edwards RG (1978) Birth after the reimplantation of a human embryo. Lancet 2(8085):366

    CAS  CrossRef  Google Scholar 

  7. Monk M, Handyside AH (1988) Sexing of preimplantation mouse embryos by measurement of X-linked gene dosage in a single blastomere. J Reprod Fertil 82(1):365–368

    CAS  CrossRef  Google Scholar 

  8. Handyside AH, Kontogianni EH, Hardy K et al (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344(6268):768–770. https://doi.org/10.1038/344768a0

    CAS  CrossRef  PubMed  Google Scholar 

  9. Handyside AH, Lesko JG, Tarin JJ et al (1992) Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med 327(13):905–909

    CAS  CrossRef  Google Scholar 

  10. Verlinsky Y, Pergament E, Binor Z et al (1987) Genetic analysis of human embryos prior to implantation: future applications of in-vitro fertilization in treatment and prevention of human genetic diseases. In: Feichtinger W, Kemeter P (eds) Future aspects in human in-vitro fertilization. Springer-Verlag, Berlin, pp 262–266

    CrossRef  Google Scholar 

  11. Verlinsky Y, Ginsberg N, Lifchez A et al (1990) Analysis of the first polar body: preconception genetic diagnosis. Hum Reprod 5(7):826–829

    CAS  CrossRef  Google Scholar 

  12. Strom CM, Verlinsky Y, Milayeva S et al (1990) Preconception genetic diagnosis of cystic fibrosis. Lancet 336(8710):306–307

    CAS  CrossRef  Google Scholar 

  13. Griffin DK, Handyside AH, Penketh RJ et al (1991) Fluorescent in-situ hybridization to interphase nuclei of human preimplantation embryos with X and Y chromosome specific probes. Hum Reprod 6(1):101–105

    CAS  CrossRef  Google Scholar 

  14. Grifo JA, Boyle A, Fischer E et al (1990) Preembryo biopsy and analysis of blastomeres by in situ hybridization. Am J Obstet Gynecol 163(6 Pt 1):2013–2019

    CAS  CrossRef  Google Scholar 

  15. Grifo JA, Boyle A, Tang YX et al (1992) Preimplantation genetic diagnosis. In situ hybridization as a tool for analysis. Arch Pathol Lab Med 116(4):393–397

    CAS  PubMed  Google Scholar 

  16. Grifo JA, Tang YX, Cohen J et al (1992) Pregnancy after embryo biopsy and coamplification of DNA from X and Y chromosomes. JAMA 268(6):727–729

    CAS  CrossRef  Google Scholar 

  17. Munne S, Lee A, Rosenwaks Z et al (1993) Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod 8(12):2185–2191

    CAS  CrossRef  Google Scholar 

  18. Munne S, Fung J, Cassel MJ et al (1998) Preimplantation genetic analysis of translocations: case-specific probes for interphase cell analysis. Hum Genet 102(6):663–674

    CAS  CrossRef  Google Scholar 

  19. Munne S, Sandalinas M, Escudero T et al (2000) Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril 73(6):1209–1218

    CAS  CrossRef  Google Scholar 

  20. Harper JC, Coonen E, Ramaekers FC et al (1994) Identification of the sex of human preimplantation embryos in two hours using an improved spreading method and fluorescent in-situ hybridization (FISH) using directly labelled probes. Hum Reprod 9(4):721–724

    CAS  CrossRef  Google Scholar 

  21. Verlinsky Y, Cieslak J, Freidine M et al (1995) Pregnancies following pre-conception diagnosis of common aneuploidies by fluorescent in-situ hybridization. Hum Reprod 10(7):1923–1927

    CAS  CrossRef  Google Scholar 

  22. Edwards RG, Cohen JA, Gianaroli L et al (2009) Yury Verlinsky (01/09/1943–16/07/2009): pioneer in CVS, PGD and hESC. Reprod Biomed Online 19(3):298–299. https://doi.org/10.1016/S1472-6483(10)60162-9

    CrossRef  Google Scholar 

  23. Verlinsky Y, Kuliev A (1991) Preimplantation genetics. Plenum Press, New York

    CrossRef  Google Scholar 

  24. Simpson JL, Carson SA, Buster JE et al (1994) Preimplantation genetic diagnosis: indications and pitfalls. In: Mori T, Tominaga T, Aono T, Horoi M (eds) Frontiers in endocrinology: perspectives on assisted reproduction. Ares-Serono Symposia Publications, Rome, pp 689–696

    Google Scholar 

  25. Harper JC (2009) Preimplantation genetic diagnosis, 2nd edn. Cambridge University Press, Cambridge

    CrossRef  Google Scholar 

  26. Kuliev A, Verlinsky Y (2004) Preimplantation HLA typing and stem cell transplantation: report of International Meeting, Cyprus, 27-8 March, 2004. Reprod Biomed Online 9(2):205–209

    CrossRef  Google Scholar 

  27. Simpson JL (2001) Changing indications for preimplantation genetic diagnosis (PGD). Mol Cell Endocrinol 183(Suppl 1):S69–S75

    CAS  CrossRef  Google Scholar 

  28. Goossens V, Harton G, Moutou C et al (2008) ESHRE PGD consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006. Hum Reprod 23(12):2629–2645. https://doi.org/10.1093/humrep/den238

    CAS  CrossRef  PubMed  Google Scholar 

  29. Harper JC, de Die-Smulders C, Goossens V et al (2008) ESHRE PGD consortium data collection VII: cycles from January to December 2004 with pregnancy follow-up to October 2005. Hum Reprod 23(4):741–755. https://doi.org/10.1093/humrep/dem354

    CAS  CrossRef  PubMed  Google Scholar 

  30. Zegers-Hochschild F, Adamson GD, de Mouzon J et al (in press) International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) revised glossary of ART terminology. Human Reproduction

    Google Scholar 

  31. Verlinsky Y, Kuliev A (2005) Practical preimplantation genetic diagnosis. Springer-Verlag, London

    Google Scholar 

  32. Gianaroli L, Magli MC, Lappi M et al (2009) Preconception diagnosis. Reprod Biomed Online 18(Supplement 3):S-5

    Google Scholar 

  33. Cohen J, Wells D, Munne S (2007) Removal of 2 cells from cleavage stage embryos is likely to reduce the efficacy of chromosomal tests that are used to enhance implantation rates. Fertil Steril 87(3):496–503. https://doi.org/10.1016/j.fertnstert.2006.07.1516

    CrossRef  PubMed  Google Scholar 

  34. De Vos A, Staessen C, De Rycke M et al (2009) Impact of cleavage-stage embryo biopsy in view of PGD on human blastocyst implantation: a prospective cohort of single embryo transfers. Hum Reprod 24(12):2988–2996. https://doi.org/10.1093/humrep/dep251

    CrossRef  PubMed  Google Scholar 

  35. Goossens V, De Rycke M, De Vos A et al (2008) Diagnostic efficiency, embryonic development and clinical outcome after the biopsy of one or two blastomeres for preimplantation genetic diagnosis. Hum Reprod 23(3):481–492. https://doi.org/10.1093/humrep/dem327

    CrossRef  PubMed  Google Scholar 

  36. Buster JE, Bustillo M, Rodi IA et al (1985) Biologic and morphologic development of donated human ova recovered by nonsurgical uterine lavage. Am J Obstet Gynecol 153(2):211–217

    CAS  CrossRef  Google Scholar 

  37. Carson S (1991) Biopsy of blastocysts. In: Verlinsky Y, Kuliev A (eds) Preimplantation genetics. Plenum Press, New York

    Google Scholar 

  38. McArthur SJ, Leigh D, Marshall JT et al (2005) Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril 84(6):1628–1636. https://doi.org/10.1016/j.fertnstert.2005.05.063

    CrossRef  PubMed  Google Scholar 

  39. McArthur SJ, Leigh D, Marshall JT et al (2008) Blastocyst trophectoderm biopsy and preimplantation genetic diagnosis for familial monogenic disorders and chromosomal translocations. Prenat Diagn 28(5):434–442. https://doi.org/10.1002/pd.1924

    CAS  CrossRef  PubMed  Google Scholar 

  40. Schoolcraft WB, Fragouli E, Stevens J et al (2010) Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril 94(5):1700–1706. https://doi.org/10.1016/j.fertnstert.2009.10.015

    CrossRef  PubMed  Google Scholar 

  41. Kuwayama M (2007) Highly efficient vitrification for cryopreservation of human oocytes and embryos: the cryotop method. Theriogenology 67(1):73–80. https://doi.org/10.1016/j.theriogenology.2006.09.014

    CAS  CrossRef  PubMed  Google Scholar 

  42. Schlenker T, Stevens J, Rawlins M et al (2009) Clinical success with vitrification following trophectoderm biopsy for comprehensive chromosomal screening. Fertil Steril 92(3):S71

    CrossRef  Google Scholar 

  43. Zheng WT, Zhuang GL, Zhou CQ et al (2005) Comparison of the survival of human biopsied embryos after cryopreservation with four different methods using non-transferable embryos. Hum Reprod 20(6):1615–1618. https://doi.org/10.1093/humrep/deh808

    CAS  CrossRef  PubMed  Google Scholar 

  44. Rechitsky S, Kuliev A, Sharapova T et al (2009) PGD impact on stem cell transplantation. Reprod Biomed Online 18(Supplement 3):S-2

    Google Scholar 

  45. Verlinsky Y, Kuliev A (2010) Preimplantation genetic diagnosis. In: Milunsky A, Mulinsky JM (eds) Genetic disorders and the fetus, 6th edn. Blackwell Publishing, Sussex, pp 950–977

    CrossRef  Google Scholar 

  46. Rechitsky S, Pakhalchuk T, San RG et al (2015) First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or preimplantation human leukocyte antigen typing, combined with 24-chromosome aneuploidy testing. Fertil Steril 103(2):503–512. https://doi.org/10.1016/j.fertnstert.2014.11.007

    CrossRef  PubMed  Google Scholar 

  47. Kuliev A, Rechitsky S, Verlinsky Y (2014) Atlas of preimplantation genetic diagnosis. CRS Press, Taylor and Francis, London

    CrossRef  Google Scholar 

  48. Gutierrez-Mateo C, Sanchez-Garcia JF, Fischer J et al (2009) Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States. Fertil Steril 92(5):1544–1556. https://doi.org/10.1016/j.fertnstert.2008.08.111

    CAS  CrossRef  PubMed  Google Scholar 

  49. Committee EPCS (2002) ESHRE preimplantation genetic diagnosis consortium: data collection III (May 2001). Hum Reprod 17(1):233–246

    CrossRef  Google Scholar 

  50. Rechitsky S, Pomerantseva E, Pakhalchuk T et al (2011) First systematic experience of preimplantation genetic diagnosis for de-novo mutations. Reprod Biomed Online 22(4):350–361. https://doi.org/10.1016/j.rbmo.2011.01.005

    CrossRef  PubMed  Google Scholar 

  51. Braude PR, De Wert GM, Evers-Kiebooms G et al (1998) Non-disclosure preimplantation genetic diagnosis for Huntington's disease: practical and ethical dilemmas. Prenat Diagn 18(13):1422–1426

    CAS  CrossRef  Google Scholar 

  52. Simpson JL (2001) Celebrating preimplantation genetic diagnosis of p53 mutations in Li-Fraumeni syndrome. Reprod Biomed Online 3(1):2–3

    CAS  CrossRef  Google Scholar 

  53. Verlinsky Y, Rechitsky S, Verlinsky O et al (2001) Preimplantation diagnosis for p53 tumour suppressor gene mutations. Reprod Biomed Online 2(2):102–105

    CAS  CrossRef  Google Scholar 

  54. Rechitsky S, Verlinsky O, Chistokhina A et al (2002) Preimplantation genetic diagnosis for cancer predisposition. Reprod Biomed Online 5(2):148–155

    CrossRef  Google Scholar 

  55. Kuliev A, Pakhalchuk T, Rechitsky S (2015) Preimplantation genetic diagnosis (PGD) for heart disease determined by genetic factors. Arrhythm Open Access 1(1):103–106. https://doi.org/10.4172/atoa.1000103

    CrossRef  Google Scholar 

  56. Kuliev A, Pomerantseva E, Polling D et al (2012) PGD for inherited cardiac diseases. Reprod Biomed Online 24(4):443–453. https://doi.org/10.1016/j.rbmo.2011.12.009

    CrossRef  PubMed  Google Scholar 

  57. Rechitsky S, Kuliev A, Tur-Kaspa I et al (2004) Preimplantation genetic diagnosis with HLA matching. Reprod Biomed Online 9(2):210–221

    CAS  CrossRef  Google Scholar 

  58. Verlinsky Y, Rechitsky S, Schoolcraft W et al (2001) Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA 285(24):3130–3133

    CAS  CrossRef  Google Scholar 

  59. Kuliev A, Verlinsky Y (2004) Thirteen years’ experience of preimplantation diagnosis: report of the Fifth International Symposium on Preimplantation Genetics. Reprod Biomed Online 8(2):229–235

    CrossRef  Google Scholar 

  60. Kuliev A, Verlinsky Y (2006) The future of preimplantation genetic diagnosis. Expert Review of Obstetrics & Gynecolog 1(1):65–72

    CAS  CrossRef  Google Scholar 

  61. Verlinsky Y, Rechitsky S, Sharapova T et al (2004) Preimplantation HLA testing. JAMA 291(17):2079–2085. https://doi.org/10.1001/jama.291.17.2079

    CAS  CrossRef  PubMed  Google Scholar 

  62. Kahraman S (2013) PGD for HLA: clinical outcomes of HLA compatible transplantation following PGD. Reprod Biomed Online 26(Supplement 1):S9–S10

    CrossRef  Google Scholar 

  63. Kahraman S, Beyazyurek C, Ekmekci CG (2011) Seven years of experience of preimplantation HLA typing: a clinical overview of 327 cycles. Reprod Biomed Online 23(3):363–371. https://doi.org/10.1016/j.rbmo.2011.05.016

    CAS  CrossRef  PubMed  Google Scholar 

  64. Kuliev A, Verlinsky O, Rechitsky S (2014) Preimplantation HLA typing for stem cell transplantation treatment of hemoglobinopathies. Thalassemia Reports 4(2):1853

    CrossRef  Google Scholar 

  65. Kuliev A (2013) Practical preimplantation genetic diagnosis. Springer, London, Heidelberg, New York

    CrossRef  Google Scholar 

  66. Munne S, Morrison L, Fung J et al (1998) Spontaneous abortions are reduced after preconception diagnosis of translocations. J Assist Reprod Genet 15(5):290–296

    CAS  CrossRef  Google Scholar 

  67. Otani T, Roche M, Mizuike M et al (2006) Preimplantation genetic diagnosis significantly improves the pregnancy outcome of translocation carriers with a history of recurrent miscarriage and unsuccessful pregnancies. Reprod Biomed Online 13(6):869–874

    CrossRef  Google Scholar 

  68. Goddijn M, Joosten JH, Knegt AC et al (2004) Clinical relevance of diagnosing structural chromosome abnormalities in couples with repeated miscarriage. Hum Reprod 19(4):1013–1017. https://doi.org/10.1093/humrep/deh172

    CAS  CrossRef  PubMed  Google Scholar 

  69. Stephenson MD, Sierra S (2006) Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. Hum Reprod 21(4):1076–1082. https://doi.org/10.1093/humrep/dei417

    CrossRef  PubMed  Google Scholar 

  70. Sugiura-Ogasawara M, Ozaki Y, Sato T et al (2004) Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations. Fertil Steril 81(2):367–373. https://doi.org/10.1016/j.fertnstert.2003.07.014

    CrossRef  PubMed  Google Scholar 

  71. Fritz MA, Schattman G (2008) Reply of the Committee: parental translocations and need for preimplantation genetic diagnosis? Distorting effects of ascertainment bias and the need for information-rich families. Fertil Steril 90(3):892–893

    CrossRef  Google Scholar 

  72. Gianaroli L, Magli MC, Ferraretti AP et al (1999) Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed. Fertil Steril 72(5):837–844

    CAS  CrossRef  Google Scholar 

  73. Gianaroli L, Magli MC, Ferraretti AP et al (2005) The beneficial effects of preimplantation genetic diagnosis for aneuploidy support extensive clinical application. Reprod Biomed Online 10(5):633–640

    CrossRef  Google Scholar 

  74. Munne S, Magli C, Cohen J et al (1999) Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod 14(9):2191–2199

    CAS  CrossRef  Google Scholar 

  75. Munne S, Sandalinas M, Escudero T et al (2003) Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online 7(1):91–97

    CrossRef  Google Scholar 

  76. Verlinsky Y, Kuliev A (2005) PGD and it role in ART. In: Brisden P (ed) Textbook of IVF and assisted preproduction. Parthenon Publishing Group, London

    Google Scholar 

  77. Verlinsky Y, Tur-Kaspa I, Cieslak J et al (2005) Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis patients. Reprod Biomed Online 11(2):219–225

    CAS  CrossRef  Google Scholar 

  78. Mersereau JE, Pergament E, Zhang X et al (2008) Preimplantation genetic screening to improve in vitro fertilization pregnancy rates: a prospective randomized controlled trial. Fertil Steril 90(4):1287–1289. https://doi.org/10.1016/j.fertnstert.2007.08.010

    CrossRef  PubMed  Google Scholar 

  79. Werlin L, Rodi I, DeCherney A et al (2003) Preimplantation genetic diagnosis as both a therapeutic and diagnostic tool in assisted reproductive technology. Fertil Steril 80(2):467–468

    CrossRef  Google Scholar 

  80. Hardarson T, Hanson C, Lundin K et al (2008) Preimplantation genetic screening in women of advanced maternal age caused a decrease in clinical pregnancy rate: a randomized controlled trial. Hum Reprod 23(12):2806–2812. https://doi.org/10.1093/humrep/den217

    CAS  CrossRef  PubMed  Google Scholar 

  81. Mastenbroek S, Twisk M, van Echten-Arends J et al (2007) In vitro fertilization with preimplantation genetic screening. N Engl J Med 357(1):9–17. https://doi.org/10.1056/NEJMoa067744

    CAS  CrossRef  PubMed  Google Scholar 

  82. Staessen C, Platteau P, Van Assche E et al (2004) 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 19(12):2849–2858. https://doi.org/10.1093/humrep/deh536

    CrossRef  PubMed  Google Scholar 

  83. Staessen C, Verpoest W, Donoso P et al (2008) Preimplantation genetic screening does not improve delivery rate in women under the age of 36 following single-embryo transfer. Hum Reprod 23(12):2818–2825. https://doi.org/10.1093/humrep/den367

    CAS  CrossRef  PubMed  Google Scholar 

  84. Cohen J, Grifo JA (2007) Multicentre trial of preimplantation genetic screening reported in the New England Journal of Medicine: an in-depth look at the findings. Reprod Biomed Online 15(4):365–366

    CrossRef  Google Scholar 

  85. Munne S, Cohen J, Simpson JL (2007) In vitro fertilization with preimplantation genetic screening. N Engl J Med 357(17):1769–1770.; author reply 1770-1761. https://doi.org/10.1056/NEJMc076314

    CAS  CrossRef  PubMed  Google Scholar 

  86. Munne S, Gianaroli L, Tur-Kaspa I et al (2007) Substandard application of preimplantation genetic screening may interfere with its clinical success. Fertil Steril 88(4):781–784. https://doi.org/10.1016/j.fertnstert.2007.08.002

    CrossRef  PubMed  Google Scholar 

  87. Simpson JL (2008) What next for preimplantation genetic screening? Randomized clinical trial in assessing PGS: necessary but not sufficient. Hum Reprod 23(10):2179–2181. https://doi.org/10.1093/humrep/den250

    CrossRef  PubMed  Google Scholar 

  88. Voullaire L, Slater H, Williamson R et al (2000) Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet 106(2):210–217

    CAS  CrossRef  Google Scholar 

  89. Wells D, Delhanty JD (2000) Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod 6(11):1055–1062

    CAS  CrossRef  Google Scholar 

  90. Wilton L, Williamson R, McBain J et al (2001) Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N Engl J Med 345(21):1537–1541. https://doi.org/10.1056/NEJMoa011052

    CAS  CrossRef  PubMed  Google Scholar 

  91. Wells D, Alfarawati S, Fragouli E (2008) Use of comprehensive chromosomal screening for embryo assessment: microarrays and CGH. Mol Hum Reprod 14(12):703–710. https://doi.org/10.1093/molehr/gan062

    CAS  CrossRef  PubMed  PubMed Central  Google Scholar 

  92. Wells D, Fragouli E, Alfarawaty S et al (2009) Highly significant improvement in embryo implantation and increased live birth rate achieved after comprehensive chromosomal screening: implications for single embryo transfer. Fertility and Sterility 92(3 (Supplement)):S79

    CrossRef  Google Scholar 

  93. Handyside AH, Harton GL, Mariani B et al (2010) Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet 47(10):651–658. https://doi.org/10.1136/jmg.2009.069971

    CrossRef  PubMed  Google Scholar 

  94. Johnson DS, Gemelos G, Baner J et al (2010) Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum Reprod 25(4):1066–1075. https://doi.org/10.1093/humrep/dep452

    CAS  CrossRef  PubMed  PubMed Central  Google Scholar 

  95. Vanneste E, Voet T, Le Caignec C et al (2009) Chromosome instability is common in human cleavage-stage embryos. Nat Med 15(5):577–583. https://doi.org/10.1038/nm.1924

    CAS  CrossRef  PubMed  Google Scholar 

  96. Treff N, Tao X, Su J et al (2009) Four hour 24 chromosome aneuploidy screening using high throughput PCR SNP allele ratio analyses. Fertility and Sterility 92(3 (Supplement)):S49–S50

    Google Scholar 

  97. Munne S, Grifo J, Wells D (2016) Mosaicism: “survival of the fittest” versus “no embryo left behind”. Fertil Steril 105(5):1146–1149. https://doi.org/10.1016/j.fertnstert.2016.01.016

    CrossRef  PubMed  Google Scholar 

  98. Debrock S, Melotte C, Spiessens C et al (2010) Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial. Fertil Steril 93(2):364–373. https://doi.org/10.1016/j.fertnstert.2008.10.072

    CrossRef  PubMed  Google Scholar 

  99. Harton GL, Munne S, Surrey M et al (2013) Diminished effect of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization. Fertil Steril 100(6):1695–1703. https://doi.org/10.1016/j.fertnstert.2013.07.2002

    CAS  CrossRef  PubMed  Google Scholar 

  100. Forman EJ, Hong KH, Franasiak JM et al (2014) Obstetrical and neonatal outcomes from the BEST Trial: single embryo transfer with aneuploidy screening improves outcomes after in vitro fertilization without compromising delivery rates. Am J Obstet Gynecol 210(2):157 e151–157 e156. https://doi.org/10.1016/j.ajog.2013.10.016

    CrossRef  Google Scholar 

  101. Franasiak JM, Scott RT Jr (2014) Embryonic aneuploidy: overcoming molecular genetics challenges improves outcomes and changes practice patterns. Trends Mol Med 20(9):499–508. https://doi.org/10.1016/j.molmed.2014.06.006

    CrossRef  PubMed  Google Scholar 

  102. Greco E, Minasi MG, Fiorentino F (2015) Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts. N Engl J Med 373(21):2089–2090. https://doi.org/10.1056/NEJMc1500421

    CrossRef  PubMed  Google Scholar 

  103. Chang J, Boulet SL, Jeng G et al (2016) Outcomes of in vitro fertilization with preimplantation genetic diagnosis: an analysis of the United States Assisted Reproductive Technology Surveillance Data, 2011-2012. Fertil Steril 105(2):394–400. https://doi.org/10.1016/j.fertnstert.2015.10.018

    CrossRef  PubMed  Google Scholar 

  104. Scott RT Jr, Galliano D (2016) The challenge of embryonic mosaicism in preimplantation genetic screening. Fertil Steril 105(5):1150–1152. https://doi.org/10.1016/j.fertnstert.2016.01.007

    CrossRef  PubMed  Google Scholar 

  105. Simpson JL, Kuliev A (2016) Commentary re: causes and estimated incidences of sex-chromosome misdiagnosis in preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online 33(5):585–586. https://doi.org/10.1016/j.rbmo.2016.08.018

    CrossRef  PubMed  Google Scholar 

  106. Brigham SA, Conlon C, Farquharson RG (1999) A longitudinal study of pregnancy outcome following idiopathic recurrent miscarriage. Hum Reprod 14(11):2868–2871

    CAS  CrossRef  Google Scholar 

  107. Munne S, Chen S, Fischer J et al (2005) Preimplantation genetic diagnosis reduces pregnancy loss in women aged 35 years and older with a history of recurrent miscarriages. Fertil Steril 84(2):331–335. https://doi.org/10.1016/j.fertnstert.2005.02.027

    CrossRef  PubMed  Google Scholar 

  108. Warburton D, Dallaire L, Thangavelu M et al (2004) Trisomy recurrence: a reconsideration based on North American data. Am J Hum Genet 75(3):376–385

    CAS  CrossRef  Google Scholar 

  109. Rubio C, Simon C, Vidal F et al (2003) Chromosomal abnormalities and embryo development in recurrent miscarriage couples. Hum Reprod 18(1):182–188

    CAS  CrossRef  Google Scholar 

  110. Murugappan G, Shahine LK, Perfetto CO et al (2016) Intent to treat analysis of in vitro fertilization and preimplantation genetic screening versus expectant management in patients with recurrent pregnancy loss. Hum Reprod 31(8):1668–1674. https://doi.org/10.1093/humrep/dew135

    CrossRef  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Joe Leigh Simpson .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and Permissions

Copyright information

© 2019 Springer Science+Business Media, LLC, part of Springer Nature

About this protocol

Verify currency and authenticity via CrossMark

Cite this protocol

Simpson, J.L., Kuliev, A., Rechitsky, S. (2019). Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction. In: Levy, B. (eds) Prenatal Diagnosis. Methods in Molecular Biology, vol 1885. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-8889-1_2

Download citation

  • DOI: https://doi.org/10.1007/978-1-4939-8889-1_2

  • Published:

  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-8887-7

  • Online ISBN: 978-1-4939-8889-1

  • eBook Packages: Springer Protocols