Identification of Chromosomal Errors in Human Preimplantation Embryos with Oligonucleotide DNA Microarray

PLoS ONE

Volumn 8, Issue 4, 2013, Pages

  Liang, Lifeng ^a,b   Wang, Cassie T ^a   Sun, Xiaofang ^b   Liu, Lian ^c   Li, Man ^c   Witz, Craig ^a   Williams, Daniel ^a   Griffith, Jason ^a   Skorupski, Josh ^a   Haddad, Ghassan ^a   Gill, Jimmy ^a   Wang, Wei Hua ^a  

^a Houston Fertility Institute   (United States)

^b GUANGZHOU MEDICAL UNIVERSITY   (China)

^c Village Medical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; ADULT; ANEUPLOIDY; ARTICLE; BIOPSY TECHNIQUE; BLASTOCYST; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CONTROLLED STUDY; DNA MICROARRAY; DNA PROBE; EMBRYO; FEMALE; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC SCREENING; HUMAN; HUMAN CELL; INTERMETHOD COMPARISON; MALE; MATERNAL AGE; PREIMPLANTATION EMBRYO;

BLASTOCYST; CHROMOSOME ABERRATIONS; EMBRYO IMPLANTATION; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PREGNANCY; PREIMPLANTATION DIAGNOSIS;

EID: 84876186866     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0061838     Document Type: Article

References (47)

1. Hassold T, Hunt P, (2001) To err(meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet 2: 280-291.
2. Jones KT, (2008) Meiosis in oocytes: predisposition to aneuploidy and its increased incidence with age. Hum Reprod Update 14: 143-158.
3. Voullaire L, Wilton L, McBain J, Callaghan T, Williamson R, (2002) Chromosome abnormalities identified by comparative genomic hybridization in embryos from women with repeated implantation failure. Mol Hum Reprod 8: 1035-1041.
4. Rubio C, Simon C, Vidal F, Rodrigo L, Pehlivan T, et al. (2003) Chromosomal abnormalities and embryo development in recurrent miscarriage couples. Hum Reprod 18: 182-188.
5. Munne S, Sandalinas M, Magli C, Gianaroli L, Cohen J, et al. (2004) Increased rate of aneuploid embryos in young women with previous aneuploid conceptions. Prenat Diagn 24: 638-643.
6. Munne S, Sandalinas M, Escudero T, Marquez C, Cohen J, (2002) Chromosome mosaicism in cleavage stage human embryos: evidence of a maternal age effect. Reprod Biomed Online 4: 223-232.
7. Platteau P, Staessen C, Michiels A, Van Steirteghem A, Liebaers I, et al. (2005) Preimplantation genetic diagnosis for aneuploidy screening in women older than 37 years. Fertil Steril 84: 319-324.
8. Hardarson T, Hanson C, Lundin K, Hillensjo T, Nilson L, et al. (2008) Preimplantation genetic screening in women of advanced maternal age caused a decrease in clinical pregnancy rate: a randomized controlled trial. Hum Reprod 23: 2806-2812.
9. Chiang T, Schultz RM, Lampson MA, (2012) Meiotic origins of maternal age-related aneuploidy. Biol Reprod 86: 1-7.
10. Baart EB, Martini E, van den Berg I, Macklon NS, Galjaard RJ, et al. (2006) Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF. Hum Reprod 21: 223-233.
11. Yang Z, Liu J, Collins J, Salem SA, Liu X, et al. (2012) 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 Cytogenetics 5: 24-29.
12. Vanneste E, Bittman L, Van der Aa N, Voet T, Vermeesch JR, (2012) New array approaches to explore single cell genomes. Front Gene 3: 44-48.
13. Schoolcraft W, Treff N, Ferry K, Stevens J, Katz-Jaffe M, et al (2010) First clinical application of SNP microarray based 24 chromosome aneuploidy screening of human blastocysts. Fertil Steril 94: S23-S24.
14. Liu J, Wang W, Sun X, Liu L, Jin H, et al. (2012) DNA microarray reveals that high proportions of human blastocysts from women of advanced maternal age are aneuploidy and mosaic. Biol Reprod 87: 1-9.
15. Gutierrez-Mateo C, Benet J, Wells D, Colls P, Bermudez MG, et al. (2004) Aneuploid study of human oocytes first polar body comparative genomic hybridization and metaphase II fluorescence in situ hybridization analysis. Hum Reprod 19: 2859-2868.
16. Geraedts J, Montag M, Magli MC, Repping S, Handyside A, et al. (2011) Polar body array CGH for prediction of the status of the corresponding oocyte. Part I: Clinical results. Hum Reprod 26: 3173-3180.
17. Northrop LE, Treff NR, Levy B, Scott Jr. RT, (2010) SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts. Mol Hum Reprod 16: 590-600.
18. Treff NR, Su J, Tao X, Levy B, Scott RT Jr, (2010) Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril 94: 2017-2021.
19. Scott RT, Ferry K, Su J, Tao X, Scott K, (2012) Comprehensive chromosome screening in highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril 97: 870-875.
20. Hehir-Kwa JY, Egmont-Petersen M, Janssen IM, Smeeth D, Geurts van Kessel A, et al. (2007) Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: A platform comparison based on statistical power analysis. DNA Res 14: 1-11.
21. Asan, Xu Y, Jiang H, Tyler-Smith C, Xue Y, et al. (2011) Comprehensive comparison of three commercial human whole-exome capture platforms. Genome Biol 12: R95.
22. Clark MJ, Chen R, Lam HY, Karczewski KJ, Chen R, et al. (2011) Performance comparison of exome DNA sequencing technologies. Nat Biotechnol 29: 908-914.
23. Harper-Stromberg E, Frelin L, Ruczinski I, Scharpt R, Jie C, et al. (2011) Performance assessment of copy number microarray platforms using a spark-in experiment. Bioinformatics 27: 1052-1060.
24. Hellani A, Abu-Amero K, Azouri J, El-Akoum S, (2008) Successful pregnancies after application of array-comparative genomic hybridization in PGS-aneuploidy screening. Reprod Biomed Online 17: 841-847.
25. Chang H, Jackson DG, Kayne PS, Ross-Macdonald PB, Ryseck RP, et al. (2011) Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines. PLoS One 6: e21097.
26. Liu P, Erez A, Nagamani SC, Dhar SU, Kołodziejska KE, et al. (2011) Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell 146: 889-903.
27. Li X, Quigg RJ, Zhou J, Gu W, Nagesh RP, et al. (2008) Clinical utility of microarrays: current status, existing challenge and future outlook. Current Genomics 9: 466-474.
28. Geigl JB, Obenauf AC, Waldispuehl-Geigl J, Hoffmann EM, Auer M, et al. (2009) Identification of small gains and losses in single cells after whole genome amplification on tiling oligo arrays. Nucleic Acids Res 37: e105.
29. Mukaida T, Oka C, Goto T, Takahashi K, (2006) Artificial shrinkage of blastocoeles using either a micro-needle or a laser pulse prior to the cooling steps of vitrification improves survival rate and pregnancy outcome of vitrified human blastocysts. Hum Reprod 21: 3246-3252.
30. Racowsky C, Vernon M, Mayer J, Ball GD, Behr B, et al. (2010) Standardization of grading embryo morphology. J Assist Reprod Genet 27: 437-439.
31. Fiegler H, Redon R, Andrews D, Scott C, Andrews R, et al. (2006) Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res 16: 1566-1574.
32. Harper JC, Harton G, (2010) The use of arrays in preimplantation genetic diagnosis and screening. Fertil Steril 94: 1173-1177.
33. Magli MC, Montag M, Köster M, Muzi L, Geraedts J, et al. (2011) Polar body array CGH for prediction of the status of the corresponding oocyte. Part II: technical aspect. Hum Reprod 26: 3181-3185.
34. Johnson DS, Cinnioglu C, Ross R, Filby A, Gemelos G, et al. (2010) Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass. Mol Hum Reprod 16: 944-949.
35. Li M, Marin DeUgarte C, Surrey M, Danzer H, DeCheney A, et al. (2005) Fluorescence in situ hybridization reanalysis of day-6 human blastocysts diagnosis with aneuploidy on day 3. Fertil Steril 84: 1395-1400.
36. Cools P, Goodell N, Zheng N, Munne S, (2009) Increased efficiency of preimplantation genetic diagnosis for aneuploidy by testing 12 chromosomes. Reprod Biomed Online 19: 532-538.
37. Masternbroek S, Twisk M, van Echten-Arends, J, Sikkema-Raddatz B, Korevaar JC, et al. (2007) In vitro fertilization with preimplantation genetic screening. N Engl J Med 357: 9-17.
38. Staessen C, Verpoest W, Donoso P, Haentjens P, Van der Elst J, et al. (2008) Preimplantation genetic screening does not improve delivery rate in women under the age of 36 following single-emnbryo transfer. Hum Reprod 23: 2818-2815.
39. Lewis R (2011) Human Genetics. Concepts and applications. 10th edit, Mcgraw Hill, New York.
40. Alfarawati S, Fragouli E, Colls P, Wells D, (2011) First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis. Hum Reprod 26: 1560-1574.
41. Fiorentino F, Spizzichino L, Bono S, Biricik A, Kokkali G, et al. (2011) PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod 26: 1925-35.
42. Rius M, Daina G, Obradors A, Ramos L, Velilla E, et al. (2011) Comprehensive embryo analysis of advanced maternal age-related aneuploidies and mosaicism by short comparative genomic hybridization. Fertil Steril 95: 413-416.
43. Jessberger R, (2012) Age-related aneuploidy through cohesion exhaustion. EMBO Rep 13: 539-546.
44. Selesniemi K, Lee HJ, Muhlhauser A, Tilly JL, (2011) Prevention of maternal aging-associated oocyte aneuploidy and meiotic spindle defects in mice by dietary and genetic strategies. Proc Natl Acad Sci U S A 108: 12319-12324.
45. Jones KT, Lane SI, (2012) Chromosomal, metabolic, environmental, and hormonal origins of aneuploidy in mammalian oocytes. Exp Cell Res 318: 1394-1399.
46. Pacchierotti F, Adler ID, Eichenlaub-Ritter U, Mailhes JB, (2007) Gender effects on the incidence of aneuploidy in mammalian germ cells. Environ Res 104: 46-69.
47. Baart EB, Martini E, Eijkemans MJ, Van Opstal D, Beckers NG, et al. (2007) Milder ovarian stimulation for in-vitro fertilization reduces aneuploidy in the human preimplantation embryo: a randomized controlled trial. Hum Reprod 22: 980-988.