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Current methods for preimplantation genetic diagnosis

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REFERENCES 1. 2. 3. 4. 5. 6. 7. 8. 9. Handyside AH, Kontogianni EH, Hardy K, [et al.]. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990, 344, 768–770. Verlinsky Y, Cohen J, Munné S, [et al.]. Over a decade of experience with preimplantation genetic diagnosis: a multicenter report. Fertility and Sterility. 2004, 82, 292–294. Simpson JL. Preimplantation genetic diagnosis at 20 years. Prenat Diagn. 2010, 30, 682–695. Coco R. Reprogenetics: Preimplantational genetic diagnosis. Genetic and Molecular Biology. 2014, 37, 271–284. Brezina R. Preimplantation Genetic Testing in the 21st Century: Unchart ed Territory. Clinical Medicine Insights: Reproductive Health. 2013, 7, 17–21. Harper JC, Geraedts J, Borry P. Current issues in medically assisted repro duction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. Human Reproduction. 2014, 29, 1603–1609. Gianaroli L, Magli MC, Pomante A, [et. al.]. Blastocentesis: a source of DNA for preimplantation genetic testing. Fertility and Sterility. 2014, 102, 1692–1699. Milachich T. New advances of preimplantation and prenatal genetic screening and noninvasive testing as a potential predictor of health status of babies. BioMed Research International. 2014, 306505, 8. Niels A, Esteki MZ, Vermeesch JR, [.]. Preimplantation genetic di agnosis guided by single-cell genomics. Genome Medicine. 2013, 5, 71. 10. Harper JC, Wilton L, Traeger-Synodinos J, [et al.] The ESHRE PGD Con sortium: 10 years of data collection. Hum Reprod. 2012, 18, 234–247. 11. Wu MY, Chao KH, Chen CD, [et al.] Current status of comprehensive chromosome screening for elective single-embryo transfer. Obstet Gynecol Int. 2014, 2014:581783. 12. Schrurs BM, Winston RM, Handyside AH. Preimplantation diagnosis of aneuploidy using fluorescent in-situ hybridization: evaluation using a chromosome 18-specific probe. Hum Reprod. 1993, 8, 296–301. 13. Munné S, Scott R, Sable D, Cohen J. First pregnancies after preconcep tion diagnosis of translocations of maternal origin. Fertil Steril. 1998, 69(4), 675–681. 526 14. Eduardo CL, Marleen MJ, Carl BB. Preimplantation Genetic Testing: Cur rent Status and Future Prospects. Ed. Shevach Friedler. In vitro fertiliza tion: Innovative clinical and laboratory aspects. InTech 2012, 137–156. 15. Mastenbroek S, Twisk M, van Echten-Arends J, [et .al.]. In vitro fertilization with preimplantation genetic screening. N Engl J Med. 2007, 357, 9–17. 16. Tan YQ, Tan K, Zhang SP, [et al.]. Single-nucleotide polymorphism microar ray-based preimplantation genetic diagnosis is likely to improve the clini cal outcome for translocation carriers. Hum Reprod. 2013, 28, 2581–2592. 17. Łukaszuk K, Pukszta S, Ochman K, [et al.]. Narodziny zdrowego dziecka u pary z nosicielstwem translokacji Robertsonowskiej po zastosowa niu Genetycznej Diagnostyki Przedimplantacyjnej (PGD) z Sekwen- cjonowaniem Następnej Generacji (NGS). ARTNewsletter, 2014, 2, 31–33. 18. Kallioniemi A, Kallioniemi OP, Sudar D, [et al.] Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. D. Science. 1992, 258, 818–821. 19. Gutiérrez-Mateo C, Colls P, Sánchez-García J, [et al.] Validation of microar ray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril. 2011, 95, 953–958. 20. Munne S. Preimplantation Genetic Diagnosis for aneuploidy and translocations using array comparative genomic hybridization. Current Genomics, 2012, 463–470, 21. Alfarawati S, Fragouli E, Colls P, Wells D. First births after preimplantation genetic diagnosis of structural chromosome abnormalities using com parative genomic hybridization and microarray analysis. 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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 Reprod. 2010, 25, 821–823. 28. Sobrino B, Brión M, Carracedo A. SNPs in forensic genetics: a review on SNP typing methodologies. Forensic Sci Int. 2005, 154, 181–194. 29. Treff NR, Su J, Tao X, [et al.] Accurate single cell 24 chromosome aneuplo idy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril. 2010, 94, 2017–2021. 30. Schoolcraft W, Treff N, Stevens J. Live birth outcome with trophoecto derm biopsy, blastocyst vitrification and single-nucleotide polymor phism microarray-based comprehensive chromosome screening in infertile patients. Fertil Steril. 2011, 96, 638–640. 31. Knapp M, Stiller M, Meyer M. Generating barcoded libraries for multiplex high-throughput sequencing. Methods Mol Biol. 2012, 840, 155–170. 32. Łukaszuk K, Pukszta S, Wells D, [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 cycles. J Fer til Steril. 2015, Jan 23. 33. 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, 2802–2813. 34. Tan Y, Yin X, Zhang S, [et al.]. Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing. Gigascience. 2014, 3, 30. 35. Treff NR, Fedick A, Tao X, [et al.]. Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease. Fertil Steril. 2013, 99, 1377–1384. www.

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