Application of next-generation sequencing for 24-chromosome aneuploidy screening of human preimplantation embryos

Molecular Cytogenetics

Volumn 8, Issue 1, 2015, Pages

  Zheng, Haiyan ^a   Jin, Hua ^b   Liu, Lian ^b   Liu, Jianqiao ^a   Wang, Wei Hua ^c  

^a GUANGZHOU MEDICAL UNIVERSITY   (China)

^b Pacgenomics Inc   (United States)

^c Houston Fertility Institute   (United States)

Author keywords

Aneuploidy screening; Array comparative genomic hybridization; Blastocyst; Next generation sequencing; Preimplantation genetic screening

Indexed keywords

ANEUPLOIDY; ARTICLE; BLASTOCYST; CELL LINE; CHROMOSOME 17; CHROMOSOME 6; CHROMOSOME 7; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME LOSS; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; EMBRYO; GENETIC SCREENING; GENOME; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN CELL; HUMAN TISSUE; NEXT GENERATION SEQUENCING; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RELIABILITY; REPRODUCTION; TROPHECTODERM; Y CHROMOSOME;

EID: 84935848930     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/s13039-015-0143-6     Document Type: Article

References (30)

1. Ebner T, Moser M, Sommergruber M, Tews G. Selection based on morphological assessment of oocytes and embryos at different stages of preimplantation development: a review. Hum Reprod Update. 2003;9:251-62.
2. Angell RR, Aitken RJ, van Look PF, Lumsden MA, Templeton AA. Chromosome abnormalities in human embryos after in vitro fertilization. Nature. 1983;303:336-8.
3. Fragouli E, Wells D, Delhanty JD. Chromosome abnormalities in the human oocyte. Cytogenet Genome Res. 2011;133:107-18.
4. Gianaroli L, Magli MC, Ferraretti AP. The in vivo and in vitro efficiency and efficacy of PGD for aneuploidy. Mol Cell Endocrinol. 2001;183 Suppl 1:S13-8.
5. Munne S, Lee A, Rosenwaks Z, Grifo J, Cohen J. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod. 1993;8:2185-91.
6. Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344:768-70.
7. Verlinsky Y, Handyside A, Grifo J, Munne S, Cohen J, Liebers I, et al. Preimplantation diagnosis of genetic and chromosomal disorders. J Assist Reprod Genet. 1994;11:236-43.
8. Al-Asmar N, Peinado V, Vera M, Remohi J, Pellicer A, Simon C, et al. Chromosomal abnormalities in embryos from couples with a previous aneuploid miscarriage. Fertil Steril. 2012;98:145-50.
9. Milan M, Cobo AC, Rodrigo L, Mateu E, Mercader A, Buendia P, et al. Redefining advanced maternal age as an indication for preimplantation genetic screening. Reprod Biomed Online. 2010;21:649-57.
10. Lee E, Illingworth P, Wilton L, Chambers GM. The clinical effectiveness of preimplantation genetic diagnosis for aneuploidy in all 24 chromosomes (PGD-A): systematic review. Hum Reprod. 2015;30:473-83.
11. Staessen C, Platteau P, Van Assche E, Michiels A, Tournaye H, Camus M, et al. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled trial. Hum Reprod. 2004;19:2849-58.
12. Hardarson T, Hanson C, Lundin K, Hillensjo T, Nilsson L, Stevic J, et al. Preimplantation genetic screening in women of advanced maternal age caused a decrease in clinical pregnancy rate: a randomized controlled trial. Hum Reprod. 2008;23:2806-12.
13. 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;17:454-66.
14. 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;99:1400-7.
15. Fiorentino F, Spizzichino L, Bono S, Biricik A, Kokkali G, Rienzi L, et al. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod. 2011;26:1925-35.
16. Treff NR, Su J, Tao X, Levy B, Scott RJ. Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril. 2010;94:2017-21.
17. Treff NR, Tao X, Ferry KM, Su J, Taylor D, Scott RJ. Development and validation of an accurate quantitative real-time polymerase chain reaction-based assay for human blastocyst comprehensive chromosomal aneuploidy screening. Fertil Steril. 2012;97:819-24.
18. Wells D, Alfarawati S, Fragouli E. Use of comprehensive chromosomal screening for embryo assessment: microarrays and CGH. Mol Hum Reprod. 2008;14:703-10.
19. Handyside AH. 24-chromosome copy number analysis: a comparison of available technologies. Fertil Steril. 2013;100:595-602.
20. Treff NR, Fedick A, Tao X, Devkota B, Taylor D, Scott RJ. Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease. Fertil Steril. 2013;99:1377-84.
21. Yin X, Tan K, Vajta G, Jiang H, Tan Y, Zhang C, et al. Massively parallel sequencing for chromosomal abnormality testing in trophectoderm cells of human blastocysts. Biol Reprod. 2013;88:69.
22. Fiorentino F, Biricik A, Bono S, Spizzichino L, Cotroneo E, Cottone G, et al. Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos. Fertil Steril. 2014;101:1375-82.
23. Martin J, Cervero A, Mir P, Martinez-Conejero JA, Pellicer A, Simon C. The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening. Fertil Steril. 2013;99:1054-61.
24. Rubio C. Next-generation sequencing: challenges in reproductive genetics. Fertil Steril. 2014;101:1252-3.
25. Wells D. Next-generation sequencing: the dawn of a new era for preimplantation genetic diagnostics. Fertil Steril. 2014;101:1250-1.
26. Knapp M, Stiller M, Meyer M. Generating barcoded libraries for multiplex high-throughput sequencing. Methods Mol Biol. 2012;840:155-70.
27. Liu J, Wang WH, Sun X, Liu L, Jin H, Li M, et al. DNA Microarray Reveals that High Proportions of Human Blastocysts from Women of Advanced Maternal Age are Aneuploid and Mosaic. Biol Reprod. 2012;87:1-9.
28. Łukaszuk K, Pukszta S, Wells D, Cybulska C, Liss J, Płóciennik L, et al. Routine use of next-generation sequencing for preimplantation genetic diagnosis of blastomeres obtained from embryos on day 3 in fresh in vitro fertilization cycle. Fertil Steril. 2015;103:1031-6.
29. Fiorentino F, Kokkali G, Biricik A, Stavrou D, Ismailoglu B, De Palma R, et al. Polymerase chain reaction-based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations. Fertil Steril. 2010;94:2001-11.
30. Simons A, Shaffer LG, Hastings RJ. Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition. Cytogenet Genome Res. 2013;141:1-6.