First experiences with preimplantation genetic screening of chromosomal aberrations using oligonucleotide-based array comparative genomic hybridization
Authors:
Petr Kuglík 1,2; Jan Smetana 1,2; Darja Němcová 3; Vladimíra Vallová 1,2; Aneta Mikulášová 1,2; Renata Gaillyová 2; Vít Hubinka 3; Marek Koudelka 3
Authors‘ workplace:
Laboratoř molekulární cytogenetiky, Ústav experimentální biologie, Přírodovědecká fakulta, MU, Brno
1; Oddělení lékařské genetiky FN, Brno
2; Reprofit International, Brno
3
Published in:
Čas. Lék. čes. 2015; 154: 127-131
Category:
Special Articles
Overview
Preimplantation genetic diagnosis (PGD) is a complex approach for detecting genetic abnormalities in early-stage embryos using genetic or molecular cytogenetic methods. Recently, single cell genomic methods based on DNA microarrays have been used for PGD. In the presented paper, we discuss and demonstrate the possibility to detect copy number variation (CNVs) in trophectoderm cells biopsied from 5-day embryos using 60-mer oligonucleotide-based array-CGH with CytoSure 8 × 15K Aneuploidy Array. Whereas this microarray platform was originally designed for analysis of unamplified DNA derived from many cells, the new methods, developed for single-cell genomics, allow the application of oligo arrays technology in preimplanation genetic diagnosis. Preclinical validation of single cell array-CGH was made by analysis of 30 positive and negative controls. Validation process included whole genome amplification of DNA from 5–10 cells with normal karyotype and from samples with known aneuploidies and structural aberrations. Subsequently, we analyzed the whole genome profiles in 118 embryos; aneuploidies of chromosomes were observed in 26.7%; segmental imbalances were proved in 6.8% of embryos. Our first experience confirmed that this oligonucleotide-based array technique enables high-resolution preimplantation aneuploidy screening of all the 23 chromosome pairs and sensitive preimplantation diagnosis of segmental imbalances such as deletions, duplications and amplifications.
Keywords:
chromosomal aberrations – preimplantation genetic analysis – oligonucleotide-based microarray – array-CGH
Sources
1. Harper JC, SenGupta SB. Preimplantation genetic diagnosis: State of the art 2011. Hum Genet 2012; 131: 175–186.
2. Handyside A. Sex and the single cell. New Sci 1990; 126 (1713): 34–35.
3. Kokkali G, Traeger-Synodinos J, Vrettou C, et al. Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of beta-thalassaemia: a pilot study. Hum Reprod 2007; 22: 1443–1449.
4. Fragouli E. Preimplantation genetic diagnosis: present and future. J Assist Reprod Genet 2007; 24(6): 201–207.
5. Van der Aa N, Esteki MZ, Vermeesch JR, et al. Preimplantation genetic diagnosis quided by single-cell genomics. Genome Medicine 2013; 5(8): 71.
6. Munné S, Lee A, Rosenwaks Z, et al. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod 1993; 8(12): 2185–2191.
7. Baart EB, Van den Berg I, Martini E, et al. FISH analysis of 15 chromosomes in human day 4 and 5 preimplantation embryos: the added value of extended aneuploidy detection. Prenat Diagn 2007; 27(1): 55–63.
8. Harper J, Coonen E, De Rycke M, et al. What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium steering committee. Hum. Reproduction 2010; 24(4): 821–833.
9. Mastenbroek S, Twisk M, van der Veen F, Repping S. Preimplantation genetic screening: a systematic review and meta-analysis of RCTs. Hum Reprod Update 2011; 17(4): 454–466.
10. Vanneste E, Voet T, Le Caignet C, et al. Chromosome instability is common in human cleavage-stage embryos. Nature Medicine 2009; 19(5): 577–583.
11. Schoolcraft WB, Fragouli E, Stevens J, et al. Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril 2010; 94(5): 1700–1706.
12. Harton GL, Munne S, Surrey M, et al. Diminished effects of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization. Fertil Steril 2013; 100 (6): 1695–1703.
13. Slamova I, Horinova V, Okenkova K, et al. Preimplantation genetic screening with used 24sure microarrays, our results and the success of in vitro fertilization cycles. Eur J of Hum Genet 2013; 21(Suppl 2): 441–442.
14. Solinas-Toldo S, Lampel S, Stilgenbauer S, et al. Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosome Cancer 1997; 20: 399–407.
15. Pinkel D, Segraves R, Sudar D, et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998; 20(2): 207–211.
16. Oostlander AE, Meijer GA, Ylstra B. Microarray-based comparative genomic hybridization and its applications in human genetics. Clin Genet 2004; 66(6): 488–495.
17. Vanneste E, Bittman L, Van der Aa N, et al. New array approaches to explore single cells genomes. Front Genet 2012; 3(44): 1–6.
18. Hughes S, Arneson N, Done S, Squire J. The use of whole genome amplification in the study of human disease. Prog Biophys Mol Biol 2005; 88(1): 173–189.
19. Van der Aa N, Cheng J, Mateiu L. Genome-wide copy numbere profiling of single cells in S-phase reveals DNA-replication domains. Nucl Acid Res 2013; 41(6): 1–13.
20. Scott RT, Upham KM, Forman EJ, et al. Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trials. Fertil Steril 2013; 100(3): 624–630.
21. Harper JC, Harton G. The use of arrays in preimplantion genetic diagnosis and screening. Fertil Steril 2010; 94(4): 1173–1177.
22. Fiorentino F, Spizzichino L, Bono S, et al. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod 2011; 26: 1925–1935.
23. Chang L-J, Chen S-U, Tsai Y-Y, et al. An update of preimplantation genetic diagnosis in gene disease, chromosomal translocation, and aneuploidy screening. Clin Exp Reprod Med 2011; 38(3): 126–134.
24. Hellani A, Abu-Amero K, Azouri J, El-Akoum S. Successful pregnancies after application of array-comparative genomic hybridization in PGS-aneuploidy screening. Reprod Biomed Online 2008; 17(6): 841–847.
25. Bi W, Breman A, Shaw CA, et al. Detection of ≥ 1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn 2012; 32(1): 10–20.
26. Vermeesch JR, Brady PD, Sanlaville D, et al. Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics. Hum Mutat 2012; 33(6): 906–915.
27. Liang L, Wang CT, Sun X. Identification of chromosomal errors in human preimplantation embryos with oligonucleotide DNA microarray. PLoS One 2013; 8(4): 1–11
28. Adler A, Lee LH, McCulloh DH. Blastocyt culture selects for euploid embryos: comparison of blastomere and trophoectoderm biopsies. Reprod Biomed Online 2013, S1472-6483(13)00636-6. doi: 10.1016/j.rbmo.2013.11.018.
Labels
Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain managementArticle was published in
Journal of Czech Physicians
Most read in this issue
- History of insulin production in Czechoslovakia
-
Spiritualita a etika v psychosomatické medicíně –
biopsychosociospirituální vztahy - Stem cells in orthopaedics
- Preparedness of health system in Israel for mass emergencies