Clinical Outcome of Preimplantation Genetic Diagnosis

  • Anver Kuliev


As mentioned in the introduction, after over two decades of application to clinical practice, PGD is no longer a research tool, but become an established procedure, considered by patients as a realistic option to reproduce responsibly without risk of having an affected pregnancy. With such an option, the at-risk couples can achieve the desired family size with no much difference from the couples without the known inherited risk. As will be described below, the available data of approximately hundreds of thousands of PGD cycles performed by the present time, suggest that the procedure is safe, accurate and reliable, and should be offered to those at need for the procedure, who will otherwise not reproduce because of fear of affected pregnancy or prenatal diagnosis followed by termination of pregnancy [1, 2].


Clinical Pregnancy Polar Body Multiple Pregnancy Implantation Rate Myotonic Dystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Preimplantation Genetic Diagnosis International Society (PGDIS). Guidelines for good practice in PGD: program requirements and laboratory quality assurance. Reprod Biomed Online. 16;16:134–47.CrossRefGoogle Scholar
  2. 2.
    ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium. Best practice guidelines for preimplantation genetic diagnosis/screening (PGD/PGS). Hum Reprod. 2011;26:14–46.CrossRefGoogle Scholar
  3. 3.
    Malpani A, Malpani A, Modi D. The use of preimplantation genetic diagnosis in sex selection for family balancing in India. Reprod Biomed Online. 2001;4:16–20.CrossRefGoogle Scholar
  4. 4.
    Kilani Z, Haj Hassan L. Sex selection and preimplantation genetic diagnosis at the Farah Hospital. Reprod Biomed Online. 2002;4:68–70.PubMedCrossRefGoogle Scholar
  5. 5.
    ESHRE Preimplantation Genetic Diagnosis (PGD). Consortium data collection X cycles from January to December 2007 with pregnancy follow up to October 2008. Hum Reprod. 2010;25:2685–797.CrossRefGoogle Scholar
  6. 6.
    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. 2011;25:275–82.CrossRefGoogle Scholar
  7. 7.
    Ginsberg N, Rechitsky S, Kuliev A, Verlinsky Y. Clinical outcomes of over thousand deliveries after preimplantation genetic diagnosis (PGD) for genetic and chromosomal disorders. 9th Annual International Conference on Preimplantation Genetics, Miami, Florida, April 23–25. Reprod Biomed Online. 2009;18(Suppl)):S35.Google Scholar
  8. 8.
    Simpson JL. Children born after preimplantation genetic diagnosis show no increase in congenital anomalies. Hum Reprod. 2011;25:6–8.CrossRefGoogle Scholar
  9. 9.
    Kuliev A, Rechitsky S. Polar body based preimplantation genetic diagnosis for Mendelian disorders. Mol Hum Reprod. 2011;17:275–85.CrossRefGoogle Scholar
  10. 10.
    Verlinsky Y, Kuliev A. Preimplantation diagnosis of genetic diseases: a new technique for assisted reproduction. New York: Wiley-Liss; 1993.Google Scholar
  11. 11.
    Goossens V, Harton G, Moutou C, Scriven PN, Traeger-Synodinos J, Sermon K, Harper JC. ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006. European Society of Human Reproduction and Embryology PGD Consortium. Hum Reprod. 2008;23:264–5.Google Scholar
  12. 12.
    Wilton L, Thornhill A, Traeger-Synodinos J, Sermon K, Harper JC. The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod. 2009;24:1221–8.PubMedCrossRefGoogle Scholar
  13. 13.
    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.PubMedCrossRefGoogle Scholar
  14. 14.
    Munné S, Sandalinas M, Escudero T. Outcome of premplantation genetic diagnosis of translocations. Fertil Steril. 2000;73:1209–18.PubMedCrossRefGoogle Scholar
  15. 15.
    Munne S. Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod Biomed Online. 2002;4:183–96.PubMedCrossRefGoogle Scholar
  16. 16.
    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.CrossRefGoogle Scholar
  17. 17.
    Kuliev A, Cieslak-Jansen J, Zlatoposlsky Z, Kirilllova I, Illlevitch Y, Verlinsky Y. Conversion and non-conversion approach to preimplantation diagnosis for chromosomal rearrangements in 475 cycles. Reprod Biomed Online. 2010;21:93–9.PubMedCrossRefGoogle Scholar
  18. 18.
    Traversa MV, Carey L, Leigh D. A molecular strategy for routine preimplantation genetic diagnosis in both reciprocal and Robertsonian translocation carriers. Hum Reprod. 2010;16:329–37.Google Scholar
  19. 19.
    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;95:1606–12.PubMedCrossRefGoogle Scholar
  20. 20.
    Munne S, Magli C, Cohen J, et al. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod. 1999;14:2191.PubMedCrossRefGoogle Scholar
  21. 21.
    Gianaroli L, Magli MC, Ferraretti AP. The in vivo and in vitro efficiency and efficacy of PGD for aneuploidy. Mol Cell Endocrinol. 2001;183:S13–8.PubMedCrossRefGoogle Scholar
  22. 22.
    Munne S, Sandalinas M, Escudero T, et al. Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online. 2003;7:91–7.PubMedCrossRefGoogle Scholar
  23. 23.
    Munne S, Bahce M, Sandalinas M. Differences in chromosome susceptibility to aneuploidy and survival to first trimester. Reprod Biomed Online. 2004;8:81–90.PubMedCrossRefGoogle Scholar
  24. 24.
    Kahraman S, Benkalifa M, Donmez E, et al. The Overall results of aneuploidy screening in 276 couples undergoing assisted reproductive techniques. Prenat Diagn. 2004;24:307–11.PubMedCrossRefGoogle Scholar
  25. 25.
    Munne S, Fisher J, Warner A, Chen S, Zouves C, Cohen J, referring centers PGD group. Preimplantation genetic diagnosis significantly reduces pregnancy loss in infertile couples: a Multi-Center Study. Fertil Steril. 2006;85:326–32.PubMedCrossRefGoogle Scholar
  26. 26.
    Munne S, Chen S, Colls P, et al. Maternal age, morphology, development and chromosome abnormalities in over 6,000 cleavage stage embryos. Reprod Biomed Online. 2007;14:628–34.PubMedCrossRefGoogle Scholar
  27. 27.
    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.PubMedCrossRefGoogle Scholar
  28. 28.
    Staessen C, Platteau P, Van Assche E, Michiels A, Tournaye H, Camus M, Devroey P, Liebaers I, Van Steirteghem A. 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;19:2849–58.PubMedCrossRefGoogle Scholar
  29. 29.
    Platteau P, Staessen C, Michiels A, Van Steirteghem A, Liebaers I, Devroey P. Preimplantation genetic diagnosis for aneuploidy in patients with unexplained recurrent miscarriages. Fertil Steril. 2005;83:393–7.PubMedCrossRefGoogle Scholar
  30. 30.
    Mastenbroek S, Twisk M, van Echten-Arends J, Sikkema-Raddatz BS, Korevaar JC, Verhoeve HR, Vogel N, Arts E, de Vries J, Bossuyt PM, et al. In vitro fertilization with preimplantation genetic screening. N Engl J Med. 2007;357:9–17.PubMedCrossRefGoogle Scholar
  31. 31.
    Fritz M. Perspectives on the efficacy and indications for preimplantation genetic screening: where are we now? Hum Reprod. 2008;23:2617–21.PubMedCrossRefGoogle Scholar
  32. 32.
    Cohen J, Well D, Munné S. 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. 2007;87:496–503.PubMedCrossRefGoogle Scholar
  33. 33.
    Munné S, Gianroli L, Tur-Kaspa I, Magli C, Sandalinas M, Grifo J, Cram D, Kahraman S, Verlinsky Y, Simpson J. Substandard application of pre implantation genetic screening may interfere with its clinical success. Fertil Steril. 2007;88:781–4.PubMedCrossRefGoogle Scholar
  34. 34.
    Cohen J, Grifo JA. Multicentre trial of preimplantation genetic screening report in the New England Journal of Medicine: an in-depth look at the findings. Reprod Biomed Online. 2007;15:365–6.PubMedCrossRefGoogle Scholar
  35. 35.
    Munné S, Cohen J, Simpson JL. In vitro fertilization with preimplantation genetic screening. N Engl J Med. 2007;357:1769–70.PubMedCrossRefGoogle Scholar
  36. 36.
    Kuliev A, Verlinsky Y. Impact of preimplantation genetic diagnosis for chromosomal disorders on reproductive outcome. Reprod Biomed Online. 2008;16:9–10.PubMedCrossRefGoogle Scholar
  37. 37.
    The Practice Committee of the Society for Assisted Reproductive Technology and Practice Committee of the American Society for Reproductive Medicine. Preimplantation genetic testing: a Practice Committee opinion. Fertil Steril. 2007;88:1497–504.CrossRefGoogle Scholar
  38. 38.
    Lathi RB, Westphal LM, Milki AA. Aneuploidy in the miscarriages of infertile women and the potential benefit of preimplantation genetic diagnosis. Fertil Steril. 2008;89:353–7.PubMedCrossRefGoogle Scholar
  39. 39.
    Gianaroli L, Magli MC, Ferraretti AP, Tabanelli C, Trengia V, Farfalli V, Cavallini G. The beneficial effects of preimplantation genetic diagnosis for aneuploidy support extensive clinical application. Reprod Biomed Online. 2005;10:633–40.PubMedCrossRefGoogle Scholar
  40. 40.
    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.PubMedCrossRefGoogle Scholar
  41. 41.
    Kuliev A. Clinical and technical aspects of preimplantation genetic diagnosis. Expet Rev Obstet Gynecol. 2008;3:591–3.CrossRefGoogle Scholar
  42. 42.
    Magli MC, Jones GM, Gras L, Gianaroli L, Korman I, Trounson AO. Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro. Hum Reprod. 2000;15:1781–6.PubMedCrossRefGoogle Scholar
  43. 43.
    Sandalinas M, Sadowy S, Alikani M, et al. Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage. Hum Reprod. 2001;16:1954–8.PubMedCrossRefGoogle Scholar
  44. 44.
    Newman RB, Luke B, editors. Multiple pregnancy. Philadelphia: Lippincott Williams and Wilkins; 2000. p. 192–4.Google Scholar
  45. 45.
    Vohr BR, Wright LL, Dusick AM, et al. Neurodevelopmental and functional development outcomes of extremely low birth weight infants in the National Institute of Child Health and Human Development Neonatal Research Network, 1993–1994. Pediatrics. 2000;105:1216–26.PubMedCrossRefGoogle Scholar
  46. 46.
    Hack M, Willson-Costello D, Friedman H, et al. Neurodevelopment and predictors of outcomes of children with birth weights of less than 1000g. Arch Pediatr Adolesc Med. 2000;154:725–31.PubMedGoogle Scholar
  47. 47.
    Geraedts J, Montag M, Magli C, et al. Polar body array CGH for prediction of the status of the corresponding oocyte. Part I: clinical results. Hum Reprod. 2011;26:3172–80.CrossRefGoogle Scholar
  48. 48.
    Magli C, Montag M, Koster M, et al. Polar body array CGH for prediction of the status of the corresponding oocyte. Part II: technical aspects. Hum Reprod. 2011. doi: 10.1093/humrep/der295.
  49. 49.
    Fragouli E, Alfarawati S, Katz-Jaffe M, et al. Comprehensive chromosome screening of polar bodies and blastocysts from couples experiencing repeated implantation failure. Fertil Steril. 2009. doi: 10.1016/j.fertnstert.2009.04.053.
  50. 50.
    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.PubMedCrossRefGoogle Scholar
  51. 51.
    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):S2-0–05.Google Scholar
  52. 52.
    Schoolcraft WB, Treff NR, Stevens JM, Ferry K, Katz-Jaffe M, Scott, RT. Live birth outcome with trophectoderm biopsy, blastocyst vitrification, and single-nucleotide polymorphism microarray– based comprehensive chromosome screening in infertile patients. Fertil Steril, 2011;96:638–640.Google Scholar
  53. 53.
    Forman EJ, Tao X, Ferry KM, Taylor D, Treff NR, Scott RT Jr. Single embryo transfer with comprehensive chromosome screening results in improved ongoing pregnancy rates and decreased miscarriage rates. Hum Reprod. 2012;27:1217–1222.Google Scholar
  54. 54.
    Scott RT Jr., Ferry K, Su J, Tao X, Scott K, Treff NRT. Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril, 2012, 97:870–875.Google Scholar
  55. 55.
    Yang Z et al. Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study. Mol Cytogenet. 2012;5:24 doi: 10.1186/1755-8166-5-24.

Copyright information

© Springer-Verlag London 2012

Authors and Affiliations

  • Anver Kuliev
    • 1
  1. 1.Reproductive Genetics InstituteChicagoUSA

Personalised recommendations