Вспомогательные репродуктивные технологии у супружеских пар с высоким риском генетических нарушений. Преимплантационный генетический скрининг

1. Coonen E., DeRycke M., Kokkalietal G. Data from the ESHRE PGD Consortium. In: Abstract book of the 31st ESHRE Annual Meeting, Lisbon, Portugal, 14-17 June 2015. Hum Reprod. 2015; 30(Suppl. 1): i1-i501. doi: 10.1093/humrep/30.Supplement_1.1.

2. Cimadomo D., Capalbo A., Ubaldi F.M., Scarica C., Palagiano A., Canipari R., Rienzi L. The impact of biopsy on human embryo developmental potential during preimplantation genetic diagnosis. Biomed. Res. Int. 2016; 2016: 7193075.

3. Munné S., Morrison L., Fung J., Márquez C., Weier U., Bahçe M. et al. Spontaneous abortions are reduced after preconception of translocations. J. Assist. Reprod. Genet. 1998; 15(5): 290-6.

4. Munné S., Magli C., Cohen J., Morton P., Sadowy S., Gianaroli L. et al. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum. Reprod. 1999; 14(9): 2191-9.

5. Simpson J.L. Preimplantation genetic diagnosis at 20 years. Prenat. Diagn. 2010; 30(7): 682-95.

6. Gardner R.J.M., Sutherland G.R. Chromosome abnormalities and genetic conseling. Oxford: University Press; 2004.

7. Fragouli E., Lenzi M., Ross R., Katz-Jaffe M., Schoolcraft W.B., Wells D. Comprehensive molecular cytogenetic analysis of the human blastocyst stage. Hum. Reprod. 2008; 23(11): 2596-608.

8. Harper J., ed. Preimplantation genetic diagnosis. Cambridge: University Press; 2009.

9. Munné S., Fragouli E., Colls P., Katz-Jaffe M., Schoolcraft W., Wells D. Improved detection of aneuploid blastocysts using a new 12-chromosome FISH test. Reprod. Biomed. Online. 2010; 20(1): 92-7.

10. Geraedts J., Montag M., Magli M.C., Repping S., Handyside A., Staessen C. et al. Polar body arrayCGH for prediction of the status of the corresponding oocyte. Part I: clinical results. Hum. Reprod. 2011; 26(11): 3173-80.

11. 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(7): 1923-7.

12. Menasha J., Levy B., Hirschhorn K., Kardon N.B. Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study. Genet. Med. 2005; 7(4): 251-63.

13. Verlinsky Y., Rechitsky S., Verlinsky O., Masciangelo C., Lederer K., Kuliev A. Preimplantation diagnosis for early-onset Alzheimer disease caused by V717L mutation. JAMA. 2002; 287(8): 1018-21.

14. Bredenoord A., Dondorp W., Pennings G., de Die-Smulders C., Smeets B., de Wert G. Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice. Eur. J. Hum. Genet. 2009; 17(12): 1550-9.

15. Tajima H., Sueoka K., Moon S.Y., Nakabayashi A., Sakurai T., Murakoshi Y. et al. The development of novel quantification assay for mitochondrial DNA heteroplasmy aimed at preimplantation genetic diagnosis of Leigh encephalopathy. J. Assist. Reprod. Genet. 2007; 24(6): 227-32.

16. Steffann J., Frydman N., Gigarel N., Burlet P., Ray P.F., Fanchin R. et al. Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis. J. Med. Genet. 2006; 43(3): 244-7.

17. 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.

18. 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(2): 382-91.

19. Hassold T., Hunt P. Maternal age and chromosomally abnormal pregnancies: what we know and what we wish we knew. Curr. Opin. Pediatr. 2009; 21(6): 703-8.

20. Harton G.L., Munne S., Surrey M., Grifo J., Kaplan B., McCulloh D.H. et al. Diminished effect of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization. Fertil. Steril. 2013; 100(6): 1695-703.

21. Hassold T.J., Matsuyama A., Newlands I.M., Matsuura J.S., Jacobs P.A., Manuel B. et al. A cytogenetic study of spontaneous abortions in Hawaii. Ann. Hum. Genet. 1978; 41(4): 443-54.

22. Marquard K., Westphal L.M., Milki A.A., Lathi R.B. Etiology of recurrent pregnancy loss in women over the age of 35 years. Fertil. Steril. 2010; 94(4): 1473-7.

23. Stephenson M.D., Awartani K.A., Robinson W.P. Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case– control study. Hum. Reprod. 2002; 17(2): 446-51.

24. Werner M., Reh A., Grifo J., Perle M.A. Characteristics of chromosomal abnormalities diagnosed after spontaneous abortions in an infertile population. J. Assist. Reprod. Genet. 2012; 29(8): 817-20.

25. Munne S., Chen S., Colls P., Garrisi J., Zheng X., Cekleniak N. et al. Maternal age, morphology, development and chromosome abnormal- ities in over 6000 cleavage-stage embryos. Reprod. Biomed. Online. 2007; 14(5): 628-34.

26. Rubio C., Rodrigo L., Mercader A., Mateu E., Buendia P., Pehlivan T. et al. Impact of chromosomal abnormalities on preimplantation embryo development. Prenat. Diagn. 2007; 27(8): 748-56.

27. Sandalinas M., Sadowy S., Alikani M., Calderon G., Cohen J., Munne S. Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage. Hum. Reprod. 2001; 16(9): 1954-8.

28. Magli M.C., Jones G.M., Gras L., Gianaroli L., Korman I., Trounson A.O. Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro. Hum. Reprod. 2000; 15(8): 1781-6.

29. Marquez C., Sandalinas M., Bahce M., Alikani M., Munne S. Chromosome abnormalities in 1255 cleavage-stage human embryos. Reprod. Biomed. Online. 2000; 1(1): 17-26.

30. Alfarawati S., Fragouli E., Colls P., Stevens J., Gutierrez-Mateo C., Schoolcraft W.B. et al. The relationship between blastocyst morphology, chromosomal abnormality, and embryo gender. Fertil. Steril. 2011; 95(2): 520-4.

31. Yang Z., Liu J., Collins G.S., Salem S.A., Liu X., Lyle S.S. 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(1): 24.

32. Kramer Y.G., Kofinas J.D., Melzer K., Noyes N., McCaffrey C., Buldo-Licciardi J. et al. Assessing morphokinetic parameters via time lapse microscopy (TLM) to predict euploidy: are aneuploidy risk classification models universal? J. Assist. Reprod. Genet. 2014; 2014: 24962789.

33. Rubio C., Bellver J., Rodrigo L., Bosch E., Mercader A., Vidal C. et al. Preimplantation genetic screening using fluorescence in situ hybridization in patients with repetitive implantation failure and advanced maternal age: two randomized trials. Fertil. Steril. 2013; 99(5): 1400-7.

34. Schoolcraft W.B., Katz-Jaffe M.G., Stevens J.., Rawlins M, Munne S. Preimplantation aneuploidy testing for infertile patients of advanced maternal age: a randomized prospective trial. Fertil. Steril. 2009; 92(1): 157-62.

35. Munne S., Chen S., Fischer J., Colls P., Zheng X., Stevens J. et al. Preimplantation genetic diagnosis reduces pregnancy loss in women aged 35 years and older with a history of recurrent miscarriages. Fertil. Steril. 2005; 84(2): 331-5.

36. Scott R.T. Jr., Ferry K., Su J., Tao X., Scott K., Treff N.R. Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil. Steril. 2012; 97(4): 870-5.

37. Grifo J.A., Hodes-Wertz B., Lee H.L., Amperloquio E., Clarke-Williams M., Adler A. Single thawed euploid embryo transfer improves IVF pregnancy, miscarriage, and multiple gestation outcomes and has similar implantation rates as egg donation. J. Assist. Reprod. Genet. 2013; 30(2): 259-64.

38. Platteau P., Staessen C., Michiels A., Van Steirteghem A., Liebaers I., Devroey P. Preimplantation genetic diagnosis for aneuploidy screen- ing in women older than 37 years. Fertil. Steril. 2005; 84(2): 319-24.

39. Lee H.L., McCulloh D.H., Hodes-Wertz B., Adler A., McCaffrey C., Grifo J.A. In vitro fertilization with preimplantation genetic screening improves implantation and live birth in women age 40 through 43. J. Assist. Reprod. Genet. 2015; 32(3): 435-44.

40. Ford H.B., Schust D.J. Recurrent pregnancy loss: etiology, diagnosis, and therapy. Rev. Obstet. Gynecol. 2009; 2: 76-83.

41. Rao L., Murthy K., Babu A., Venkata P., Deenadayal M., Singh L. Chromosome inversions and a novel chromosome insertion associated with recurrent miscarriages in South India. Arch. Gynecol. Obstet. 2005; 272(4): 273-7.

42. Mozdarani H., Meybodi A.M., Zari-Moradi S. A cytogenetic study of couples with recurrent spontaneous abortions and infertile patients with recurrent IVF/ICSI failure. Indian J. Hum. Genet 2008; 14: 1-6.

43. Kochhar P.K., Ghosh P. Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities. J. Obstet. Gynaecol. Res. 2013; 39: 113-20.

44. Carp H., Feldman B., Oelsner G., Schiff E. Parental karyotype and subsequent live births in recurrent miscarriage. Fertil. Steril. 2004; 81(5): 1296-301.

45. Franssen M.T., Musters M., van der Veen F., Repping S., Leschot N.J., Bossuyt P.M. et al. Reproductive outcome after PGD in couples with recurrent miscarriage carrying a structural chromosome abnormality: a systematic review. Hum. Reprod. Update. 2011; 17(4): 467-75.

46. Fridström M., Ahrlund-Richter L., Iwarsson E., Malmgren H., Inzunza J., Rosenlund B. et al. Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities. Prenat. Diagn. 2001; 21(9): 781-7.

47. Sugiura-Ogasawara M., Suzumori K. Can preimplantation genetic diagnosis improve success rates in recurrent aborters with translocations? Hum. Reprod. 2005; 20(12): 3267-70.

48. Wang N., Zheng Y.M., Li L., Jin F. Preimplantation genetic screening: an effective testing for infertile and repeated miscarriage patients? Obstet. Gynecol. Int. 2010; 2010: 120130.

49. Mantzouratou A., Mania A., Fragouli E., Xanthopoulou L., Tashkandi S., Fordham K. et al. Variable aneuploidy mechanisms in embryos from couples with poor reproductive histories undergoing preimplantation genetic screening. Hum. Reprod. 2007; 22(7): 1844-51.

50. Yang Z., Lin J., Zhang J., Fong W.I., Li P., Zhao R. et al. Randomized comparison of next-generation sequencing and array comparative genomic hybridization for preimplantation genetic screening: a pilot study. BMC Med Genomics. 2015; 8: 30. doi: 10.1186/s12920-015-0110-4.

Поступила 03.11.2017

Принята в печать 11.11.2017