Current state of preimplantation genetic diagnosis

Abstract

Preimplantation genetic diagnosis was first reported 20 years ago. During this time the range of possibilities of assisted reproductive technology has expanded and the possibility of molecular diagnosis of single cells greatly increased. Preimplantation diagnosis has evolved from an experimental procedure to an efficient form of Prenatal Diagnosis, which broadened the indications for Prenatal Diagnosis and can be applied at the earliest stage. This review shows the current state of preimplantation genetic diagnosis and describes its capabilities

Keywords

preimplantation genetic diagnosis / prenatal diagnosis

References

[1] 1. Российская Федерация. Закон. Об основах охраны здоровья граждан в Российской Федерации N 323-ФЗ от 21 ноября 2011 г. // Российская газета. Федеральный выпуск. — 2011. — № 5639.

[2] 2. A prospective randomized controlled trial of preimplantation genetic screening in the ‘‘good prognosis’’ patient / Meyer L. R. [at al.] // Fertil. Steril. — 2009. — Vol. 91, N. 5. — P. 1731–1738.

[3] 3. Accreditation of the PGD laboratory / Harper J. C. [et al.] // Hum. Reprod. — 2010. — Vol. 25, N. 4. — P. 1051–1065

[4] 4. Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis / Steffann J. [et al.] // J. Med. Genet. — 2006. — Vol. 43. — P. 244–247

[5] 5. Clinical application of comprehensive chromosomal screening at the blastocyst stage / Schoolcraft W. B. [et al.] // Fertil. Steril. — 2010. — Vol. 94, N. 5. — P. 1700–1706.

[6] 6. Cohen J., Grifo J. A. Multicenter trial of preimplantation genetic screening report in the New England Journal of Medicine: an in-depth look at the findings // Reprod. Biomed. Online. — 2007 — Vol. 15, N. 4. — P. 365–366.

[7] 7. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled trial / Staessen C. [at al.] // Hum. Reprod. — 2004. — Vol. 19, N. 12. — P. 2849–2858.

[8] 8. Comprehensive molecular cytogenetic analysis of the human blastocyst stage / Fragouli E. [et al.] // Hum. Reprod. — 2008. — Vol. 23, N. 11. — P. 2596–2608.

[9] 9. Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage / Eiben B. [et al.] // Am. J. Hum. Genet. — 1990. — Vol. 47. — P. 656–663

[10] 10. Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation / Fragouli E. [et al.] // Hum. Reprod. — 2011. — Vol. 26, N 2. — P. 480–490.

[11] 11. Cytogenetics European Quality Assessment (CEQA) [сайт] URL: http://www.ceqa-cyto.eu. — (дата обращения 05.03.2012).

[12] 12. Diagnosis of major chromosome aneuploidies in human preimplantation embryos / Munne S. [et al.] // Hum. Reprod. — 1993. — Vol. 8, N. 12. — P. 2185–2192.

[13] 13. Effect of infertility, maternal age, and number of previous miscarriages on the outcome of preimplantation genetic diagnosis for idiopathic recurrent pregnancy loss / Garrisi J. G. [et al.] // Fertil. Steril. — 2009. — Vol. 92, N. 1. — P. 288–295.

[14] 14. ESHRE PGD consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008 / Harper J. C. [et al.] // Hum. Reprod. — 2010. — Vol.25, N 11. — P. 2685–2707.

[15] 15. ESHRE PGD Consortium. PGD guidelines [сайт]. — 2010. URL: http://www.eshre.eu / ESHRE / English / Specialty-Groups / SIG / Reproductive-Genetics / PGD-Consortium/PGD-Consortium-Publications/page.aspx/217. — (дата обращения 05.03.2012).

[16] 16. First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis / Alfarawati S. [et al.] // Hum. Reprod. — 2011. — Vol. 26, N. 6. — P. 1560–1574.

[17] 17. Gardner R. J. M., Sutherland G. R. Chromosome abnormalities and genetic conseling. — Oxford: University Press, 2004. — 577 p.

[18] 18. Improved detection of aneuploid blastocysts using a new 12-chromosome FISH test / Munné S. [et al.] // Reprod. Biomed. Online. — 2010. — Vol. 20, N. 1. — P. 92–97.

[19] 19. In Vitro Fertilization with Preimplantation Genetic Screening / Mastenbroek S. [et al.] // N. Engl. J. Med. — 2007. — Vol. 357, N 1. — P. 9–17.

[20] 20. Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study / Menasha J. [et al.] // Genet. Med. — 2005. — Vol. 7. N 4. — P. 251–263.

[21] 21. Is aneuploidy screening for patients aged 35 or over beneficial? A prospective randomized trial / Stevens J. [at al.] // Fertil. Steril. — 2004. — Vol. 82, suppl. 2. — P. 249.

[22] 22. IVF / ICSI with or without preimplantation genetic screening for aneuploidy in couples without genetic disorders: a systematic review and meta-analysis / Checa M. A. [et al.] // J. Assist. Reprod. Genet. — 2009. — Vol. 26, N 5. — P. 273–283.

[23] 23. Polar body arrayCGH for prediction of the status of the corresponding oocyte. Pt. I: clinical results / Geraedts J. [et al.] // Hum. Reprod. — 2011. — Vol. 26, N 11. — P. 3173–80.

[24] 24. Practice Committee of American Society for Reproductive Medicine. Preimplantation genetic testing: a Practice Committee opinion. Practice Committee of Society for Assisted Reproductive Technology // Fertil. Steril. — 2008. — Vol. 90, suppl. 5. — P. 136–143.

[25] 25. Pregnancies following pre-conception diagnosis of common aneuploidies by FISH / Verlinsky Y. [et al.] // Hum. Reprod. — 1995. — Vol. 10, N 7. — P. 1923–1927.

[26] 26. Preimplantation aneuploidy testing for infertile patients of advanced maternal age: a randomized prospective trial / Schoolcraft W. B. [at al.] // Fertil. Steril. — 2009. — Vol. 92, N 1. — P. 157–162.

[27] 27. Preimplantation diagnosis for early-onset Alzheimer disease caused by V717L mutation / Verlinsky Y. [et al.] // JAMA. — 2002. — Vol. 287, N 8. — P. 1018–1021.

[28] 28. Preimplantation diagnosis for Fanconi anemia combined with HLA matching / Verlinsky Y. [et al.] // JAMA. — 2001. — Vol. 285, N 24. — P. 3130–3133.

[29] 29. Preimplantation Genetic diagnosis / ed. J. Harper. — Cambridge: University Press, 2009. — 294p.

[30] 30. Preimplantation genetic diagnosis as both a therapeutic and diagnostic tool in assisted reproductive technology / Werlin L. [et al.] // Fertil. Steril. — 2003 — Vol. 80, N 2. — P. 467–468.

[31] 31. Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice / Bredenoord A. [et al.] // Eur. J. Hum. Genet. — 2009. — Vol. 17, N 12. — P. 1550–1559

[32] 32. Preimplantation Genetic Diagnosis International Society (PGDIS). Guidelines for good practice in PGD: programme requirements and laboratory quality assurance. Preimplantation Genetic Diagnosis International Society (PGDIS) // Reprod. Biomed. Online. — 2008. — Vol. 16, N 1. — P. 134–147.

[33] 33. Preimplantation genetic diagnosis significantly reduces pregnancy loss in infertile couples: a multicenter study / Munne S. [et al.] // Fertil. Steril. — 2006. — Vol. 85, N 2. — P. 326–332.

[34] 34. Preimplantation genetic screening does not improve delivery rate in women under the age of 36 following single-embryo transfer / Staessen C. [et al.] // Hum. Reprod. — 2008. — Vol. 23, N 12. — P. 2818–2825.

[35] 35. Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial / Debrock S. [et al.] // Fertil. Steril. — 2010. — Vol. 93, N. 2. — P. 364–373.

[36] 36. Preimplantation genetic screening in women of advanced maternal age caused a decrease inclinical pregnancy rate: a randomized controlled trial / Handarson T. [et al.] // Hum. Reprod. — 2008. — Vol. 23, N. 12. — P. 2806–2812.

[37] 37. Preimplantation genetic screening to improve in vitro fertilization pregnancy rates: a prospective randomized controlled trial / Mersereau J. E. [at al.] // Fertil. Steril. — 2008. — Vol. 90, N 4. — P. 1287–1289.

[38] 38. Preimplantation HLA typing with aneuploidy testing / Rechitsky S. [et al.] // Reprod. Biomed. Online. — 2006. — Vol. 12, N. 1. — P. 89–100.

[39] 39. Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis patients / Verlinsky Y. [et al.] // Reprod. Biomed. Online. — 2005. — Vol. 11, N 2. — P. 219–225.

[40] 40. Prospective randomized controlled trial of PGS in IVF / ICSI patients with poor implantation / Blockeel C. [et al.] // Reprod. Biomed. Online. — 2008 — Vol. 17, N 6. — P. 848–854.

[41] 41. Quality management system in PGD / PGS: now is the time / Vendrell X. [et al.] // J. Assist. Reprod. Genet. — 2009. — Vol. 26. — P. 197–204.

[42] 42. Simpson J. L. Preimplantation genetic diagnosis at 20 years // Prenat. Diagn. — 2010. — Vol. 30, N 7. — P. 682–695.

[43] 43. Simpson J. L. What next for preimplantation genetic screening? Randomized clinical trial in assessing PGS: necessary but not sufficient // Hum. Reprod. — 2008. — Vol. 23, N 10. — P. 2179–2181.

[44] 44. Single nucleotide polymorphism microarray-based concurrent screening of 24-chrromosome aneuploidy and unbalanced translocations in preimplantation human embryos / Treff N. R. [et al.] // Fertil. Steril. — 2011. — Vol. 95, N 5. — P. 1606–1612.

[45] 45. Substandard application of preimplantation genetic screening may interfere with its clinical success / Munne´ S. [at al.] // Fertil. Steril. — 2007. — Vol. 88, N 4. — P.781–784.

[46] 46. The beneficial effects of preimplantation genetic diagnosis for aneuploidy support extensive clinical application / Gianaroli L. [et al.] // Reprod. Biomed. Online. — 2005. — Vol. 10, N 5. — P. 633–640.

[47] 47. The development of novel quantification assay for mitochondrial DNA heteroplasmy aimed at preimplantation genetic diagnosis of Leigh encephalopathy / Tajima H. [et al.] // J. Assist. Reprod. Genet. — 2007. — Vol. 24, N 6. — P. 227–232.

[48] 48. UK National External Quality Assessment Service (UKNEQAS) [сайт] http://www.ukneqas-molgen.org.uk. — (дата обращения: 05.03.2012).

[49] 49. What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium steering committee / Harper J. [et al.] // Hum. Reprod. — 2010. — Vol. 25, N 4. — P. 821–823.

[50] 50. What next for preimplantation genetic screening (PGS)? Experience with blastocyst biopsy and testing for aneuploidy / Jansen R. P. S. [at al.] // Hum. Reprod. — 208. — Vol. 23, N 7. — P. 1476–1478.

RIGHTS & PERMISSIONS

Loginova J.A., Chiryaeva O.G.