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Volumn 36, Issue 2, 2016, Pages 154-162

Detection and quantitation of chromosomal mosaicism in human blastocysts using copy number variation sequencing

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; ARTICLE; BLASTOCYST; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; EMBRYO; HUMAN; HUMAN TISSUE; PRIORITY JOURNAL; CRYOPRESERVATION; DNA SEQUENCE; DOWN SYNDROME; EMBRYO TRANSFER; FEMALE; GENETICS; METABOLISM; MOSAICISM; PREGNANCY; PREIMPLANTATION GENETIC DIAGNOSIS; PROCEDURES; TROPHOBLAST; TURNER SYNDROME;

EID: 84957810695     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4759     Document Type: Article
Times cited : (50)

References (37)
  • 1
    • 0142243201 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis and human implantation--a review
    • Munné S. Preimplantation genetic diagnosis and human implantation--a review. Placenta 2003;24(Suppl B):S70-6.
    • (2003) Placenta , vol.24 , pp. S70-S76
    • Munné, S.1
  • 3
    • 0027730222 scopus 로고
    • Diagnosis of major chromosome aneuploidies in human preimplantation embryos
    • Munné S, Lee A, Rosenwaks Z, et al. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod 1993;8(12):2185-91.
    • (1993) Hum Reprod , vol.8 , Issue.12 , pp. 2185-2191
    • Munné, S.1    Lee, A.2    Rosenwaks, Z.3
  • 4
    • 0031468605 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis increases the implantation rate in human in vitro fertilization by avoiding the transfer of chromosomally abnormal embryos
    • Gianaroli L, Magli MC, Ferraretti AP, et al. Preimplantation genetic diagnosis increases the implantation rate in human in vitro fertilization by avoiding the transfer of chromosomally abnormal embryos. Fertil Steril 1997;68(6):1128-31.
    • (1997) Fertil Steril , vol.68 , Issue.6 , pp. 1128-1131
    • Gianaroli, L.1    Magli, M.C.2    Ferraretti, A.P.3
  • 5
    • 0036295563 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review
    • Wilton L. Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review. Prenat Diagn 2002;22(6):512-8.
    • (2002) Prenat Diagn , vol.22 , Issue.6 , pp. 512-518
    • Wilton, L.1
  • 6
    • 84901670101 scopus 로고    scopus 로고
    • Reprogenetics: Preimplantational genetics diagnosis
    • Coco R. Reprogenetics: Preimplantational genetics diagnosis. Genet Mol Biol 2014;37(Suppl 1):271-84.
    • (2014) Genet Mol Biol , vol.37 , pp. 271-284
    • Coco, R.1
  • 7
    • 84866694368 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for aneuploidy and translocations using array comparative genomic hybridization
    • Munné S. Preimplantation genetic diagnosis for aneuploidy and translocations using array comparative genomic hybridization. Curr Genomics 2012;13(6):463-70.
    • (2012) Curr Genomics , vol.13 , Issue.6 , pp. 463-470
    • Munné, S.1
  • 8
    • 84883364133 scopus 로고    scopus 로고
    • 24-chromosome copy number analysis: a comparison of available technologies
    • Handyside AH. 24-chromosome copy number analysis: a comparison of available technologies. Fertil Steril 2013;100(3):595-602.
    • (2013) Fertil Steril , vol.100 , Issue.3 , pp. 595-602
    • Handyside, A.H.1
  • 9
    • 84903794560 scopus 로고    scopus 로고
    • Detection of chromosomal aneuploidy in human preimplantation embryos by next-generation sequencing
    • Wang L, Wang X, Zhang J, et al. Detection of chromosomal aneuploidy in human preimplantation embryos by next-generation sequencing. Biol Reprod 2014;90(5):95.
    • (2014) Biol Reprod , vol.90 , Issue.5 , pp. 95
    • Wang, L.1    Wang, X.2    Zhang, J.3
  • 10
    • 84928823213 scopus 로고    scopus 로고
    • Validation of copy number variation sequencing for detecting chromosome imbalances in human preimplantation embryos
    • Wang L, Cram DS, Shen J, et al. Validation of copy number variation sequencing for detecting chromosome imbalances in human preimplantation embryos. Biol Reprod 2014;91(2):37.
    • (2014) Biol Reprod , vol.91 , Issue.2 , pp. 37
    • Wang, L.1    Cram, D.S.2    Shen, J.3
  • 11
    • 84899932270 scopus 로고    scopus 로고
    • Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos
    • Fiorentino F, Biricik A, Bono S, et al. Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos. Fertil Steril 2014;101(5):1375-82.
    • (2014) Fertil Steril , vol.101 , Issue.5 , pp. 1375-1382
    • Fiorentino, F.1    Biricik, A.2    Bono, S.3
  • 12
    • 84921971016 scopus 로고    scopus 로고
    • Validation of multiple annealing and looping-based amplification cycle sequencing for 24-chromosome aneuploidy screening of cleavage-stage embryos
    • Huang J, Yan L, Fan W, et al. Validation of multiple annealing and looping-based amplification cycle sequencing for 24-chromosome aneuploidy screening of cleavage-stage embryos. Fertil Steril 2014;102(6):1685-91.
    • (2014) Fertil Steril , vol.102 , Issue.6 , pp. 1685-1691
    • Huang, J.1    Yan, L.2    Fan, W.3
  • 13
    • 84876951707 scopus 로고    scopus 로고
    • Massively parallel sequencing for chromosomal abnormality testing in trophectoderm cells of human blastocysts
    • Yin X, Tan K, Vajta G, et al. Massively parallel sequencing for chromosomal abnormality testing in trophectoderm cells of human blastocysts. Biol Reprod 2013;88(3):69.
    • (2013) Biol Reprod , vol.88 , Issue.3 , pp. 69
    • Yin, X.1    Tan, K.2    Vajta, G.3
  • 14
    • 84905487367 scopus 로고    scopus 로고
    • Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation
    • Wells D, Kaur K, Grifo J, et al. Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation. J Med Genet 2014;51(8):553-62.
    • (2014) J Med Genet , vol.51 , Issue.8 , pp. 553-562
    • Wells, D.1    Kaur, K.2    Grifo, J.3
  • 15
    • 84928973006 scopus 로고    scopus 로고
    • Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles
    • Fiorentino F, Bono S, Biricik A, et al. Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles. Hum Reprod 2014;29(12):2802-13.
    • (2014) Hum Reprod , vol.29 , Issue.12 , pp. 2802-2813
    • Fiorentino, F.1    Bono, S.2    Biricik, A.3
  • 16
    • 66749169417 scopus 로고    scopus 로고
    • Chromosome instability is common in human cleavage-stage embryos
    • Vanneste E, Voet T, Le Caignec C, et al. Chromosome instability is common in human cleavage-stage embryos. Nat Med 2009;15(5):577-83.
    • (2009) Nat Med , vol.15 , Issue.5 , pp. 577-583
    • Vanneste, E.1    Voet, T.2    Le Caignec, C.3
  • 17
    • 79954576637 scopus 로고    scopus 로고
    • Aneuploidy in the human cleavage stage embryo
    • Mantzouratou A, Delhanty JD. Aneuploidy in the human cleavage stage embryo. Cytogenet Genome Res 2011;133(2-4):141-8.
    • (2011) Cytogenet Genome Res , vol.133 , Issue.2-4 , pp. 141-148
    • Mantzouratou, A.1    Delhanty, J.D.2
  • 19
    • 78650517537 scopus 로고    scopus 로고
    • Meiosis errors in over 20,000 oocytes studied in the practice of preimplantation aneuploidy testing
    • Kuliev A, Zlatopolsky Z, Kirillova I, et al. Meiosis errors in over 20, 000 oocytes studied in the practice of preimplantation aneuploidy testing. Reprod Biomed Online 2011;22(1):2-8.
    • (2011) Reprod Biomed Online , vol.22 , Issue.1 , pp. 2-8
    • Kuliev, A.1    Zlatopolsky, Z.2    Kirillova, I.3
  • 20
    • 84904631663 scopus 로고    scopus 로고
    • The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans
    • Taylor TH, Gitlin SA, Patrick JL, et al. The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Hum Reprod Update 2014;20(4):571-81.
    • (2014) Hum Reprod Update , vol.20 , Issue.4 , pp. 571-581
    • Taylor, T.H.1    Gitlin, S.A.2    Patrick, J.L.3
  • 21
    • 0033868950 scopus 로고    scopus 로고
    • Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro
    • Magli MC, Jones GM, Gras L, et al. Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro. Hum Reprod 2000;15(8):1781-6.
    • (2000) Hum Reprod , vol.15 , Issue.8 , pp. 1781-1786
    • Magli, M.C.1    Jones, G.M.2    Gras, L.3
  • 22
    • 40049088129 scopus 로고    scopus 로고
    • Analysis of the evolution of chromosome abnormalities in human embryos from Day 3 to 5 using CGH and FISH
    • Daphnis DD, Fragouli E, Economou K, et al. Analysis of the evolution of chromosome abnormalities in human embryos from Day 3 to 5 using CGH and FISH. Mol Hum Reprod 2008;14(2):117-25.
    • (2008) Mol Hum Reprod , vol.14 , Issue.2 , pp. 117-125
    • Daphnis, D.D.1    Fragouli, E.2    Economou, K.3
  • 23
    • 84883382649 scopus 로고    scopus 로고
    • Selecting the optimal time to perform biopsy for preimplantation genetic testing
    • Scott KL, Hong KH, Scott RT Jr. Selecting the optimal time to perform biopsy for preimplantation genetic testing. Fertil Steril 2013;100(3):608-14.
    • (2013) Fertil Steril , vol.100 , Issue.3 , pp. 608-614
    • Scott, K.L.1    Hong, K.H.2    Scott, R.T.3
  • 24
    • 84875136034 scopus 로고    scopus 로고
    • Blastocyst culture and transfer in clinical-assisted reproduction: a committee opinion
    • Practice Committees of the American Society for Reproductive Medicine and the Society for Assisted Reproductive Technology
    • Practice Committees of the American Society for Reproductive Medicine and the Society for Assisted Reproductive Technology. Blastocyst culture and transfer in clinical-assisted reproduction: a committee opinion. Fertil Steril 2013;99(3):667-72.
    • (2013) Fertil Steril , vol.99 , Issue.3 , pp. 667-672
  • 25
    • 84880566187 scopus 로고    scopus 로고
    • 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
    • Capalbo A, Wright G, Elliott T, et al. 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 2013;28(8):2298-307.
    • (2013) Hum Reprod , vol.28 , Issue.8 , pp. 2298-2307
    • Capalbo, A.1    Wright, G.2    Elliott, T.3
  • 26
    • 79251470387 scopus 로고    scopus 로고
    • Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation
    • Fragouli E, Alfarawati S, Daphnis DD, et al. Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation. Hum Reprod 2011;26(2):480-90.
    • (2011) Hum Reprod , vol.26 , Issue.2 , pp. 480-490
    • Fragouli, E.1    Alfarawati, S.2    Daphnis, D.D.3
  • 27
    • 84876196810 scopus 로고    scopus 로고
    • DNA microarray reveals that high proportions of human blastocysts from women of advanced maternal age are aneuploid and mosaic
    • Liu J, Wang W, Sun X, et al. DNA microarray reveals that high proportions of human blastocysts from women of advanced maternal age are aneuploid and mosaic. Biol Reprod 2012;87(6):148.
    • (2012) Biol Reprod , vol.87 , Issue.6 , pp. 148
    • Liu, J.1    Wang, W.2    Sun, X.3
  • 28
    • 84859161063 scopus 로고    scopus 로고
    • Detection of aneuploidy by array comparative genomic hybridization using cell lines to mimic a mosaic trophectoderm biopsy
    • Mamas T, Gordon A, Brown A, et al. Detection of aneuploidy by array comparative genomic hybridization using cell lines to mimic a mosaic trophectoderm biopsy. Fertil Steril 2012;97(4):943-7.
    • (2012) Fertil Steril , vol.97 , Issue.4 , pp. 943-947
    • Mamas, T.1    Gordon, A.2    Brown, A.3
  • 29
    • 84891822473 scopus 로고    scopus 로고
    • Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing
    • Wang Y, Chen Y, Tian F, et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem 2014;60(1):251-9.
    • (2014) Clin Chem , vol.60 , Issue.1 , pp. 251-259
    • Wang, Y.1    Chen, Y.2    Tian, F.3
  • 30
    • 84906790977 scopus 로고    scopus 로고
    • A PGD pregnancy achieved by embryo copy number variation sequencing with confirmation by non-invasive prenatal diagnosis
    • Wang H, Wang L, Ma M, et al. A PGD pregnancy achieved by embryo copy number variation sequencing with confirmation by non-invasive prenatal diagnosis. J Genet Genomics 2014;41(8):453-6.
    • (2014) J Genet Genomics , vol.41 , Issue.8 , pp. 453-456
    • Wang, H.1    Wang, L.2    Ma, M.3
  • 31
    • 84877601474 scopus 로고    scopus 로고
    • Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing
    • Liang D, Lv W, Wang H, et al. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn 2013;33(5):409-15.
    • (2013) Prenat Diagn , vol.33 , Issue.5 , pp. 409-415
    • Liang, D.1    Lv, W.2    Wang, H.3
  • 32
    • 84880038440 scopus 로고    scopus 로고
    • Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population
    • Song Y, Liu C, Qi H, et al. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn 2013;33(7):700-6.
    • (2013) Prenat Diagn , vol.33 , Issue.7 , pp. 700-706
    • Song, Y.1    Liu, C.2    Qi, H.3
  • 33
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25(14):1754-60.
    • (2009) Bioinformatics , vol.25 , Issue.14 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 34
    • 78649281579 scopus 로고    scopus 로고
    • Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass
    • Johnson DS, Cinnioglu C, Ross R, et al. Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass. Mol Hum Reprod 2010;16(12):944-9.
    • (2010) Mol Hum Reprod , vol.16 , Issue.12 , pp. 944-949
    • Johnson, D.S.1    Cinnioglu, C.2    Ross, R.3
  • 35
    • 0026560379 scopus 로고
    • Spontaneous abortion and confined chromosomal mosaicism
    • Kalousek DK, Barrett IJ, Gärtner AB. Spontaneous abortion and confined chromosomal mosaicism. Hum Genet 1992;88(6):642-6.
    • (1992) Hum Genet , vol.88 , Issue.6 , pp. 642-646
    • Kalousek, D.K.1    Barrett, I.J.2    Gärtner, A.B.3
  • 36
    • 33748310570 scopus 로고    scopus 로고
    • Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause
    • 140A
    • Miura K, Yoshiura K, Miura S, et al. Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause. Am J Med Genet 2006; 140A(17):1827-33.
    • (2006) Am J Med Genet , Issue.17 , pp. 1827-1833
    • Miura, K.1    Yoshiura, K.2    Miura, S.3
  • 37
    • 77955126785 scopus 로고    scopus 로고
    • SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts
    • Northrop LE, Treff NR, Levy B, et al. 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 2010;16(8):590-600.
    • (2010) Mol Hum Reprod , vol.16 , Issue.8 , pp. 590-600
    • Northrop, L.E.1    Treff, N.R.2    Levy, B.3


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