Detection of mosaicism at blastocyst stage with the use of high-resolution next-generation sequencing

Fertility and Sterility

Volumn 107, Issue 5, 2017, Pages 1085-1091

  Munné, Santiago ^a   Wells, Dagan ^a,b  

^a Reprogenetics LLC   (United States)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

aneuploidy; blastocyst; Mosaic; preimplantation genetic screening; preimplantation genetic testing

Indexed keywords

BLASTOCYST; CHROMOSOME MOSAICISM; HUMAN; INFERTILITY THERAPY; NEXT GENERATION SEQUENCING; PATIENT CARE; PRACTICE GUIDELINE; PRIORITY JOURNAL; REVIEW; VALIDATION PROCESS; CHROMOSOME DISORDERS; DNA SEQUENCE; EMBRYO TRANSFER; EMBRYOLOGY; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; GENETICS; HIGH THROUGHPUT SEQUENCING; MOSAICISM; NIDATION; PATHOLOGY; PHYSIOLOGY; PREIMPLANTATION GENETIC DIAGNOSIS; PROCEDURES; TRENDS;

BLASTOCYST; CHROMOSOME DISORDERS; EMBRYO IMPLANTATION; EMBRYO TRANSFER; FEMALE; GENETIC COUNSELING; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOSAICISM; PREIMPLANTATION DIAGNOSIS; SEQUENCE ANALYSIS, DNA;

EID: 85017139681     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2017.03.024     Document Type: Review

References (38)

1. 1 Delhanty, J.D., Griffin, D.K., Handyside, A.H., Harper, J., Atkinson, G.H., Pieters, M.H., et al. Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridization (FISH). Hum Mol Genet 2 (1993), 1183–1185.
2. 2 Munné, S., Weier, H.U., Grifo, J., Cohen, J., Chromosome mosaicism in human embryos. Biol Reprod 51 (1994), 373–379.
3. 3 Munné, S., Alikani, M., Tomkin, G., Grifo, J., Cohen, J., Embryo morphology, developmental rates and maternal age are correlated with chromosome abnormalities. Fertil Steril 64 (1995), 382–391.
4. 4 Magli, M.C., Jones, G.M., Gras, L., Gianaroli, L., Korman, I., Trouson, A.O., Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro. Hum Reprod 15 (2000), 1781–1786.
5. 5 Bielanska, M., Tan, S.L., Ao, A., Chromosomal mosaicism throughout human Preimplantation development in vitro: incidence, type, and relevance to embryo outcome. Hum Reprod 17 (2002), 413–419.
6. 6 Munné, S., Chromosome abnormalities and their relationship to morphology and development of human embryos. Reprod Biomed Online 12 (2006), 234–253.
7. 7 Colls, P., Escudero, T., Cekleniak, N., Sadowy, S., Cohen, J., Munné, S., Increased efficiency ofpreimplantation genetic diagnosis forinfertility using “no result rescue”. Fertil Steril 88 (2007), 53–61.
8. 8 Baart, E., Martini, E., van den Berg, I., Macklon, N., Galjaard, R.J., Fauser, B.C., Van Opstal, D., Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF. Hum Reprod 21 (2006), 223–233.
9. 9 Taylor, T.H., Gitlin, S.A., Patrick, J.L., Crain, J.L., Wilson, J.M., Griffin, D.K., The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Hum Reprod Update 20 (2014), 571–581.
10. 10 Velilla, E., Escudero, T., Munné, S., Blastomere fixation techniques and risk of misdiagnosis for PGD of aneuploidy. Reprod Biomed Online 4 (2002), 210–217.
11. 11 Capalbo, A., Ubaldi, F.M., Rienzi, L., Scott, R., Treff, N., Detecting mosaicism in trophectoderm biopsies: current challenges and future possibilities. Hum Reprod 32 (2017), 492–498.
12. 12 Munné, S., Magli, C., Adler, A., Wright, G., de Boer, K., Mortimer, D., et al. Treatment-related chromosome abnormalities in human embryos. Hum Reprod 12 (1997), 780–784.
13. 13 Fragouli, E., Alfarawati, S., Daphnis, D.D., Goodall, N.N., Mania, A., Griffths, T., et al. Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation. Hum Reprod 26 (2011), 480–490.
14. 14 Wells, D., Delhanty, J.D., Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod 6 (2000), 1055–1062.
15. 15 Voullaire, L., Slater, H., Williamson, R., Wilton, L., Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet 106 (2000), 210–217.
16. 16 Greco, E., Minasi, M.G., Fiorentino, F., Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts. N Engl J Med 373 (2015), 2089–2090.
17. 17 Maxwell, S.M., Collis, P., Hodes-Wertz, B., McCulloh, D.H., McCaffrey, C., Wells, D., et al. Why do euploid embryos miscarry? A case-control study comparing the rate of aneuploidy within presumed euploid embryos that resulted in miscarriage or live birth using next-generation sequencing. Fertil Steril 106 (2016), 1414–1419.
18. 18 Fragouli E, Alfarawati S, Spath K, Tarozzi N, Borini A, Wells D. Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid-aneuploid blastocysts. Hum Genet. In press.
19. 19 Ruttanajit, T., Chanchamroen, S., Cram, D.S., Sawakwongpra, K., Suksalak, W., Leng, X., et al. Detection and quantitation of chromosomal mosaicism in human blastocysts using copy number variation sequencing. Prenat Diagn 36 (2016), 154–162.
20. 20 Capalbo, A., Wright, G., Elliott, T., Ubaldi, F.M., Rienzi, L., Nagy, P.Z., FISH reanalysis of inner cell mass and trophectoderm samples of previously array-CGH screened blastocysts shows high accuracy of diagnosis and no major diagnostic impact of mosaicism at the blastocyst stage. Hum Reprod 28 (2013), 2298–2307.
21. 21 Colls, P., Escudero, T., Fischer, J., Cekleniak, N., Ben-Ozer, S., Meyer, B., et al. Validation of array comparative genome hybridization for diagnosis of translocations in preimplantation human embryos. Reprod Biomed Online 24 (2012), 621–629.
22. 22 Kung, A., Munné, S., Bankowski, B., Coates, A., Wells, D., Validation of next-generation sequencing for comprehensive chromosome screening of embryos. Reprod Biomed Online 31 (2015), 760–769.
23. 23 Mir, P., Mateu, E., Mercader, A., Herrer, R., Rodrigo, L., Vera, M., et al. Confirmation rates of array-CGH in day-3 embryo and blastocyst biopsies for preimplantation genetic screening. J Assist Reprod Genet 33 (2016), 59–66.
24. 24 Ribustello, L., Escudero, T., Lanzas, J., Liu, E., Munné, S., Mosaic embryos, detected by NGS, are mostly classified as euploid by aCGH. Reprod Biomed Online 33 (2016), 258–259.
25. 25 Capalbo, A., Rienzi, L., Cimadomo, D., Maggiulli, R., Elliott, T., Wright, G., et al. Correlation between standard blastocyst morphology, euploidy and implantation: an observational study in two centers involving 956 screened blastocysts. Hum Reprod 29 (2014), 1173–1181.
26. 26 Bolton, H., Graham, S.J.L., van der Aa, N., Kumar, P., Theunis, K., Fernandez Gallardo, E., et al. Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential. Nat Commun, 7, 2016, 11165.
27. 27 Scott, R.T., Galliano, D., The challenge of embryonic mosaicism in preimplantation genetic screening. Fertil Steril 105 (2016), 1150–1152.
28. 28 Munné, S., Sandalinas, M., Escudero, T., Marquez, C., Cohen, J., Chromosome mosaicism in cleavage stage human embryos: evidence of a maternal age effect. Reprod Biomed Online 4 (2002), 223–232.
29. 29 Bielanska, M., Tan, S.L., Ao, A., High rate of mixoploidy among human blastocysts cultured in vitro. Fertil Steril 78 (2002), 1248–1253.
30. 30 Sandalinas, M., Sadowy, S., Alikani, M., Calderon, G., Cohen, J., Munné, S., Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage. Hum Reprod 16 (2001), 1954–1958.
31. 31 Rodriguez-Purata, J., Lee, J., Whitehouse, M., Duke, M., Grunfeld, L., Sandler, B., et al. Reproductive outcome is optimized by genomic embryo screening, vitrification, and subsequent transfer into a prepared synchronous endometrium. J Assist Reprod Genet 33 (2016), 401–412.
32. 32 Munné, S., Alikani, M., Ribustello, L., Colls, P., Martínez-Ortiz, P.A., Referring Physician Group, McCulloh, D.H., Euploidy rates in donor egg cycles significantly differ between fertility centers. Hum Reprod 32 (2017), 743–749.
33. 33 Munné, S., Grifo, J., Wells, D., Mosaicism: “survival Fittest” Versus “no Embryo Left behind”. Fertil Steril 105 (2016), 1146–1149.
34. 34 Kalousek, D.K., Barrett, I.J., Gärtner, A.B., Spontaneous abortion and confined chromosomal mosaicism. Hum Genet 88 (1992), 642–646.
35. 35 Huang, A., Adusumalli, J., Patel, S., Liem, J., Williams, J., Pisarska, M.D., Prevalence of chromosomal mosaicism in pregnancies from couples with infertility. Fertil Steril 91 (2009), 2355–2360.
36. 36 Weier, J.F., Weier, H.U., Jung, C.J., Gormley, M., Zhou, Y., Chu, L.W., et al. Human cytotrophoblasts acquire aneuploidies as they differentiate to an invasive phenotype. Dev Biol 279 (2005), 420–432.
37. 37 Malvestiti, F., Agrati, C., Grimi, B., Pompilii, E., Izzi, C., Martinoni, L., et al. Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis. Prenat Diagn 35 (2015), 1117–1127.
38. 38 Besser, A.G., Mounts, E.L., Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening. Reprod Biomed Online, 2017 [Epub ahead of print].