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• W2123746912 abstract "Largely because of efforts required to complete the Human Genome Project, DNA sequencing has undergone a steady transformation with still-ongoing developments of high-throughput sequencing machines for which the cost per reaction is falling drastically. Similarly, the fast-changing landscape of reproductive technologies has been improved by genetic approaches. Preimplantation genetic diagnosis and screening were established more than two decades ago for selecting genetically normal embryos to avoid inherited diseases and to give the highest potential to achieve stable pregnancies. Most recent additions to the IVF practices (blastocyst/trophectoderm biopsy, embryo vitrification) and adoption of new genetics tools such as array comparative genome hybridization have allowed setting up more precise and efficient programs for clinical embryo diagnosis. Nevertheless, there is always room for improvements. Remarkably, a recent explosion in the release of advanced sequencing benchtop platforms, together with a certain maturity of bioinformatics tools, has set the target goal of sequencing individual cells for embryo diagnosis to be a realistically feasible scenario for the near future. Next-generation sequencing technology should provide the opportunity to simultaneously analyze single-gene disorders and perform an extensive comprehensive chromosome screening/diagnosis by concurrently sequencing, counting, and accurately assembling millions of DNA reads. Largely because of efforts required to complete the Human Genome Project, DNA sequencing has undergone a steady transformation with still-ongoing developments of high-throughput sequencing machines for which the cost per reaction is falling drastically. Similarly, the fast-changing landscape of reproductive technologies has been improved by genetic approaches. Preimplantation genetic diagnosis and screening were established more than two decades ago for selecting genetically normal embryos to avoid inherited diseases and to give the highest potential to achieve stable pregnancies. Most recent additions to the IVF practices (blastocyst/trophectoderm biopsy, embryo vitrification) and adoption of new genetics tools such as array comparative genome hybridization have allowed setting up more precise and efficient programs for clinical embryo diagnosis. Nevertheless, there is always room for improvements. Remarkably, a recent explosion in the release of advanced sequencing benchtop platforms, together with a certain maturity of bioinformatics tools, has set the target goal of sequencing individual cells for embryo diagnosis to be a realistically feasible scenario for the near future. Next-generation sequencing technology should provide the opportunity to simultaneously analyze single-gene disorders and perform an extensive comprehensive chromosome screening/diagnosis by concurrently sequencing, counting, and accurately assembling millions of DNA reads. Discuss: You can discuss this article with its authors and with other ASRM members at http://fertstertforum.com/martinj-next-generation-sequencing-pgd/ Discuss: You can discuss this article with its authors and with other ASRM members at http://fertstertforum.com/martinj-next-generation-sequencing-pgd/ Recent advances in genetics and genomics have significantly affected biomedical sciences and how we face unsolved health problems (1Zimmern R.L. Khoury M.J. The impact of genomics on public health practice: the case for change.Public Health Genomics. 2012; 15: 118-124Crossref PubMed Scopus (31) Google Scholar). Improvements in our understanding for many common and rare conditions allow a better management of these disorders, thus offering patients and their families a better quality of life. Reproductive sciences, a fast developing field of medicine, is closely following all these changes in genomics to clinically integrate the most effective strategies for personalized fertility treatments. Thus assisted reproduction technology (ART) has incorporated genetic tools for genetic testing of preimplantation embryos, which was initially performed to diagnose patients who were known to carry high risk for monogenic disorders (2Handyside A.H. Kontogianni E.H. Hardy K. Winston R.M. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification.Nature. 1990; 344: 768-770Crossref PubMed Scopus (1249) Google Scholar) or chromosomal structural abnormalities (3Verlinsky Y. Handyside A. Grifo J. Munné S. Cohen J. Liebers I. et al.Preimplantation diagnosis of genetic and chromosomal disorders.J Assist Reprod Genet. 1994; 11: 236-243Crossref PubMed Scopus (45) Google Scholar). It was then applied to treat fertility patients with increased risk for aneuploid embryos. Preimplantation genetic screening (PGS) was introduced into clinical practice for screening and discarding aneuploid embryos, thus improving the chance of healthy conceptions after infertility treatment with poor prognoses, such as advanced maternal age, repeated implantation failure, and recurrent miscarriage (4Al-Asmar N. Peinado V. Vera M. Remohí J. Pellicer A. Simón C. et al.Chromosomal abnormalities in embryos from couples with a previous aneuploid miscarriage.Fertil Steril. 2012; 98: 145-150Abstract Full Text Full Text PDF PubMed Scopus (18) Google Scholar, 5Milán M. Cobo A.C. Rodrigo L. Mateu E. Mercader A. Buendía P. et al.Redefining advanced maternal age as an indication for preimplantation genetic screening.Reprod Biomed Online. 2010; 21: 649-657Abstract Full Text Full Text PDF PubMed Scopus (42) Google Scholar). Request for PGS for chromosomal abnormalities is now a daily demand in IVF clinics. The initial preimplantation genetic diagnosis (PGD)/PGS standard technique for detecting chromosomes was fluorescence in situ hybridization (FISH), with the use of specific probes for the chromosomes most commonly involved in aneuploidy. The presence or absence of a normal pair of chromosomes could be identified, thereby selecting for transfer only chromosomally normal embryos. Choosing embryos with normal chromosomes should increase implantation rate and live-birth rate and reduce miscarriage rate. However, FISH-based PGS results were untenable by some reports (6Staessen 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: 2849-2858Crossref PubMed Scopus (432) Google Scholar, 7Mastenbroek S. Twisk M. van Echten–Arends J. Sikkema-Raddatz B. Korevaar J.C. Verhoeve H.R. et al.In vitro fertilization with preimplantation genetic screening.N Eng J Med. 2007; 357: 9-17Crossref PubMed Scopus (564) Google Scholar, 8Hardarson T. Hanson C. Lundin K. Hillensjö 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: 2806-2812Crossref PubMed Scopus (190) Google Scholar). Owing to these less favorable outcomes, a more comprehensive, genome-wide profiling technique was needed that did not require any prior information of the chromosomal aberration. This new technique, comparative genome hybridization (CGH), enables the assessment of all chromosomes by comparing test DNA with normal control DNA (9Wilton L. Preimplantation genetic diagnosis and chromosome analysis of blastomeres using comparative genomic hybridization.Hum Reprod Update. 2005; 11: 33-41Crossref PubMed Scopus (97) Google Scholar, 10Wells D. Levy B. Cytogenetics in reproductive medicine: the contribution of comparative genomic hybridization (CGH).BioEssays. 2003; 25: 289-300Crossref PubMed Scopus (39) Google Scholar). However, CGH had important limitations—time for diagnosis, human resources, less skilled IVF protocols for biopsy and freezing, and less robust protocols for whole-genome amplification (WGA)—which limited the adoption of CGH in the clinical practice of ART. Before long, array CGH (aCGH) was developed, an improved technology for the detection of chromosomal imbalances (11Cai W.W. Mao J.H. Chow C.W. Damani S. Balmain A. Bradley A. Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays.Nat Biotechnol. 2002; 20: 393-396Crossref Scopus (157) Google Scholar). Coupled with WGA, it enabled researchers to analyze the very limited amount of genetic material in a single cell, requiring less time than WGA followed by conventional CGH (12Wells D. Alfarawati S. Fragouli E. Use of comprehensive chromosomal screening for embryo assessment: microarrays and CGH.Mol Hum Reprod. 2008; 14: 703-710Crossref PubMed Scopus (134) Google Scholar). In addition, some microarray platforms offer the advantage of testing embryos for combined chromosomal and single-gene disorder (SGD) diagnosis (13Handyside A.H. Harton G.L. Mariani B. Thornhill A.R. Affara N. Shaw M.A. et al.Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes.J Med Genet. 2010; 47: 651-658Crossref PubMed Scopus (264) Google Scholar). This simultaneous approach is essential because even at a lower frequency than PGS, PGD for SGD is still an important indication in IVF clinics. According to the European Society for Human Reproduction and Embryology PGD consortium (14Harper J.C. Wilton L. Traeger-Synodinos J. Goossens V. Moutou C. SenGupta S.B. et al.The ESHRE PGD Consortium: 10 years of data collection.Hum Reprod Update. 2012; 18: 234-247Crossref PubMed Scopus (238) Google Scholar) SGD diagnosis represents ∼17% of recorded PGD data. Furthermore, setting up new SGD-PGD protocols is a constant request, as demonstrated by a yearly increase in the number of reported diseases (15Goossens V. Traeger-Synodinos J. Coonen E. de Rycke M. Moutou C. Pehlivan T. et al.ESHRE PGD Consortium data collection XI: cycles from January to December 2008 with pregnancy follow-up to October 2009.Hum Reprod. 2012; 27: 1887-1911Crossref PubMed Scopus (67) Google Scholar). Even with new methods such as WGA approaches, setting up new determinations requires a trained laboratory and dedicated time for assessing and validating each case. As an illustration, we began our department for SGD-PGD in 2002 and since then >100 different conditions have been analyzed (Supplemental Table 1; Supplemental Fig. 1; both available online at www.fertstert.org) with continual yearly additions. An enormous amount of work is necessary for almost every condition, because all SGDs require assessment and validation for every new test, i.e., detection of a mutation or mutations together with linked haplotype by polymorphic markers. Interestingly, comprehensive chromosome screening (CCS) by quantitative polymerase chain reaction (PCR) has demonstrated accurate aneuploidy diagnosis (16Treff N.R. Tao X. Ferry K.M. Su J. Taylor D. Scott Jr., R.T. 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: 819-824Abstract Full Text Full Text PDF PubMed Scopus (187) Google Scholar) and could also be used for a combined chromosomal and SGD screening. However, for conventional fluorescent PCR, a specific validation test should be performed for every new mendelian disease. Owing to these requirements, developing and validating a straightforward genomic approach capable of simultaneous analysis of all mentioned PGD/PGS indications is a necessity. Advances in DNA sequencing have made it increasingly practical to generate large amounts of sequence data cost-effectively with the use of high-throughput next-generation sequencing (NGS) technologies. The collection of technologies included in this new paradigm continue to evolve, and further improvements in technology robustness and workflow, as well as finding new ways to reduce costs, will favor the adoption of NGS into clinical diagnosis. Eventually the advantages of NGS will be brought to PGD/PGS patients. Herein we review how current changes in IVF practice for embryo assessment and biopsy, emerging and improvements in random whole genome amplification methods, as well as advances in sequencing technologies and occurrence of new platforms, open NGS to PGD/PGS programs. A key element for IVF success is to implement a good embryo assessment tool. Detailed embryo morphology examination, together with extended embryo culture and blastocyst transfer, was adopted by IVF clinics in an attempt to increase implantation and gestation rates, and it also facilitated the transition to single-embryo transfer (SET). The use of coculture media (17Mercader A. Garcia-Velasco J.A. Escudero E. Remohí J. Pellicer A. Simón C. Clinical experience and perinatal outcome of blastocyst transfer after coculture of human embryos with human endometrial epithelial cells: a 5-year follow-up study.Fertil Steril. 2003; 80: 1162-1168Abstract Full Text Full Text PDF PubMed Scopus (75) Google Scholar) or sequential embryo culture media (18Gardner D.K. Vella P. Lane M. Wagley L. Schlenker T. Schoolcraft W.B. Culture and transfer of human blastocysts increases implantation rates and reduces the need for multiple embryo transfers.Fertil Steril. 1998; 69: 84-88Abstract Full Text PDF PubMed Scopus (528) Google Scholar) resulted in >50% blastocyst development with a simultaneous increase in implantation rates compared with those obtained with the transfer of cleavage-stage embryos. In addition, the possibility of selecting a normal embryo by culturing to blastocyst was suggested (19Ménézo Y. Chouteau J. Veiga A. In vitro fertilization and blastocyst transfer for carriers of chromosomal translocation.Eur J Obstet Gynecol Reprod Biol. 2001; 96: 193-195Abstract Full Text Full Text PDF Scopus (17) Google Scholar); however, further data indicated that this additional culturing does not select against chromosomally abnormal embryos at the preimplantation stage of embryo development (20Evsikov S. Cieslak J. Verlinsky Y. Effect of chromosomal translocations on the development of preimplantation human embryos in vitro.Fertil Steril. 2000; 74: 672-677Abstract Full Text Full Text PDF PubMed Scopus (39) Google Scholar) and that a high number of genetically abnormal embryos still exist (21Emiliani S. Gonzalez-Merino E. van den Bergh M. Delneste D. Englert Y. Abramowicz M. Correlation between fluorescence in-situ hybridization analyses and in-vitro development to blastocyst stage of embryos from Robertsonian translocation (13;14) carriers.Hum Reprod. 2002; 17: 2957-2962Crossref Scopus (5) Google Scholar). In this situation, the challenge for the embryologist is trying to identify the most viable embryos to prioritize them for transfer, thus improving the clinical efficiency of SET. Further methods for selecting a normal blastocyst, including genetic techniques, were warranted. The rationale behind the use of PGD/PGS for this purpose is that only euploid embryos would be candidates for transfer, resulting in more live births. Additionally the number of miscarriages should be reduced by eliminating the transfer of chromosomally abnormal embryos. However, using cleavage-stage embryos, PGS by traditional chromosome screening methods mostly failed to show improvements in IVF outcome (6Staessen 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: 2849-2858Crossref PubMed Scopus (432) Google Scholar, 7Mastenbroek S. Twisk M. van Echten–Arends J. Sikkema-Raddatz B. Korevaar J.C. Verhoeve H.R. et al.In vitro fertilization with preimplantation genetic screening.N Eng J Med. 2007; 357: 9-17Crossref PubMed Scopus (564) Google Scholar, 8Hardarson T. Hanson C. Lundin K. Hillensjö 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: 2806-2812Crossref PubMed Scopus (190) Google Scholar, 22Rubio C, Bellver J, Rodrigo L, Bosch E, Mercader A, Vidal F, 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 2012. ePub December 20, 2012. doi: 10.1016/j.fertnstert.2012.11.041Google Scholar). All along, cleavage-stage aspiration has been the predominant method of cell removal in the PGD field (14Harper J.C. Wilton L. Traeger-Synodinos J. Goossens V. Moutou C. SenGupta S.B. et al.The ESHRE PGD Consortium: 10 years of data collection.Hum Reprod Update. 2012; 18: 234-247Crossref PubMed Scopus (238) Google Scholar). However, the well documented chromosome mosaicism that exists in early human embryos (23Harper J.C. Coonen E. Handyside A.H. Winston R.M. Hopman A.H. Delhanty J.D. Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermicpreimplantation human embryos.Prenat Diagn. 1995; 15: 41-49Crossref PubMed Scopus (284) Google Scholar) suggests that a biopsied cell may not be truly representative of the rest of the embryo. Mosaicism could complicate the accuracy of diagnosis, thus contributing to the failure of PGS to show a benefit. Another explanation for failed PGS could be the inconsistency of the technique used for diagnosis. Recently, a prospective, randomized, blinded, and paired comparison between single-nucleotide polymorphism (SNP) microarray-based 24-chromosome aneuploidy screening and FISH-based aneuploidy screening found a poor predictive value of cleavage-stage and FISH for aneuploidy determination in morphologically normal blastocysts (24Treff N.R. Levy B. Su J. Northrop L.E. Tao X. Scott Jr., R.T. SNP microarray–based 24 chromosome aneuploidy screening is significantly more consistent than FISH.Mol Hum Reprod. 2010; 16: 583-589Crossref PubMed Scopus (123) Google Scholar). Taken together, this evidence makes it clear that FISH-based technology is mainly inadequate for the diagnosis of aneuploidy in early human embryos. To overcome the difficulties seen by FISH-based PGS studies, and thanks to the advancements in IVF practice, a new biopsy approach—blastocyst biopsy—was clinically evaluated as a useful tool to obtain high embryo implantation rates (25McArthur S.J. Leigh D. Marshall J.T. Gee A.J. de Boer K.A. Jansen R.P. Blastocyst trophectoderm biopsy and preimplantation genetic diagnosis for familial monogenic disorders and chromosomal translocations.Prenat Diagn. 2008; 28: 434-442Crossref PubMed Scopus (71) Google Scholar). By means of trophectoderm biopsy, more cells, and therefore more DNA, are available for analysis compared with cleavage-stage biopsy. This fact facilitates the implementation of techniques requiring a certain amount of DNA, thus helping to avoid pitfalls associated with a limiting technique and reducing the misdiagnosis rate. Still, recent investigations found a total of 17% of mosaic embryos (a mixture of diploid and aneuploid cell lines) at the blastocyst stage (26Fragouli E. Alfarawati S. Daphnis D.D. Goodall N.N. Mania A. Griffiths T. et al.Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation.Hum Reprod. 2011; 26: 480-490Crossref PubMed Scopus (207) Google Scholar). The fate of these embryos is unclear. One should acknowledge that some diploid-aneuploid mosaic blastocysts may be viable and might be incorrectly discarded if aneuploid cells were analyzed. Moreover, because novel genetic diagnostic tools are based on expensive technology, the new time point of biopsy often reduces the number of samples analyzed, which results in a more time and cost-effective procedure. Remarkably, although the results of single-cell aCGH (27Fiorentino 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: 1925-1935Crossref PubMed Scopus (192) Google Scholar, 28Mir P. Rodrigo L. Mateu E. Mercader A. Escrich L. Buendia P. et al.Accuracy rates in biopsies performed on day-3 and day-5 embryos using CGH array technology for PGS.Reprod Biomed Online. 2012; 24: S42Abstract Full Text PDF Google Scholar) and early single-cell NGS-based research (29Navin N. Kendall J. Troge J. Andrews P. Rodgers L. McIndoo J. et al.Tumour evolution inferred by single-cell sequencing.Nature. 2011; 472: 90-94Crossref PubMed Scopus (1768) Google Scholar) were encouraging, limited amounts of DNA may impede the establishment of accurate PGD programs based on single-cell sequencing. This was demonstrated by Navin et al. (29Navin N. Kendall J. Troge J. Andrews P. Rodgers L. McIndoo J. et al.Tumour evolution inferred by single-cell sequencing.Nature. 2011; 472: 90-94Crossref PubMed Scopus (1768) Google Scholar), who showed that the presence of sparse sequence coverage can translate into a nonviable clinical diagnosis scenario, giving a poor prognosis for clinical implementation of NGS-based PGD/PGS using a single-cell approach. Blastocyst biopsy should remove this limitation, because more cells can be analyzed at the same time, thus favoring a NGS-based embryo diagnosis. One of the main limitations for PGD based on blastocyst biopsy is that it would likely require cryopreservation of the blastocyst to provide sufficient time for analysis. The recent introduction of vitrification as a new effective method to cryopreserve blastocysts (30Kuwayama M. Highly efficient vitrification for cryopreservation of human oocytes and embryos: the Cryotop method.Theriogenology. 2007; 67: 73-80Abstract Full Text Full Text PDF PubMed Scopus (602) Google Scholar) has become an important advancement in IVF laboratories. Vitrification is an ultrarapid cooling technique that is now widely used, replacing the conventional cryopreservation methods based on slow cooling. Vitrification has high survival rates even after blastocyst biopsy (31Kokkali G. Vrettou C. Traeger-Synodinos J. Jones G.M. Cram D.S. Stavrou D. et al.Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of beta-thalassaemia major.Hum Reprod. 2005; 20: 1855-1859Crossref PubMed Scopus (65) Google Scholar, 32McArthur S.J. Leigh D. Marshall J.T. de Boer K.A. Jansen R.P. Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts.Fertil Steril. 2005; 84: 1628-1636Abstract Full Text Full Text PDF PubMed Scopus (198) Google Scholar). This result was of great value for early PGD approaches based on trophectoderm biopsies, because it allowed an unlimited amount of time for the diagnosis. Moreover, the vitrified embryos can be transferred in a “nonstimulated” cycle where the endometrium can be optimal for implantation, resulting in a higher pregnancy rate (33Zhu D. Zhang J. Cao S. Zhang J. Heng B.C. Huang M. et al.Vitrified-warmed blastocyst transfer cycles yield higher pregnancy and implantation rates compared with fresh blastocyst transfer cycles—time for a new embryo transfer strategy?.Fertil Steril. 2011; 95: 1691-1695Abstract Full Text Full Text PDF PubMed Scopus (110) Google Scholar, 34Chang E.M. Han J.E. Kim Y.S. Lyu S.W. Lee W.S. Yoon T.K. Use of the natural cycle and vitrification thawed blastocyst transfer results in better in-vitro fertilization outcomes: cycle regimens of vitrification thawed blastocyst transfer.J Assist Reprod Genet. 2011; 28: 369-374Crossref PubMed Scopus (68) Google Scholar, 35Schoolcraft W.B. Treff N.R. Stevens J.M. Ferry K. Katz-Jaffe M. Scott R.T. Live birth outcome with trophectoderm biopsy, blastocyst vitrification, and single-nucleotide polymorphism microarray–based comprehensive chromosome screening in infertile patients.Fertil Steril. 2011; 96: 638-640Abstract Full Text Full Text PDF PubMed Scopus (129) Google Scholar). But not all PGS approaches for comprehensive evaluation involve cryopreservation. Previously described CCS by quantitative PCR (16Treff N.R. Tao X. Ferry K.M. Su J. Taylor D. Scott Jr., R.T. 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: 819-824Abstract Full Text Full Text PDF PubMed Scopus (187) Google Scholar) offers the opportunity to analyze trophectoderm biopsies in time for the fresh transfer of a euploid blastocyst. Althought NGS workflows may improve to eventually allow fresh embryo transfer after blastocyst biopsy, current analytic workflow (36Mardis E. The impact of next-generation sequencing technology on genetics.Trends Genet. 2008; 24: 133-141Abstract Full Text Full Text PDF PubMed Scopus (1520) Google Scholar) prevents having results in time for a viable clinical situation where biopsied blastocysts may be transferred without cryopreservation, which underscores the importance of vitrification. In addition to the above-described IVF practice, before clinical application of NGS-based PGD/PGS, an adaptation and validation of a WGA method to NGS-specific requirements will be crucial for obtaining a highly representative nonbiased WGA product. The ideal WGA approach should then give a high yield with consistent representation of the original template and complete coverage of the genome. Different WGA methods have been described for single-cell analysis, but two main types are available: PCR-based ones and multiple displacement amplification (MDA)–based ones. Among the PCR-based methods, primer extension preamplification (PEP) and degenerate oligonucleotide–primed PCR (DOP-PCR) have been the most used. In reality, PEP was applied only in cases of PGD for monogenic disorders (37Sermon K. Lissens W. Joris H. van Steirteghem A. Liebaers I. Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocols.Mol Hum Reprod. 1996; 2: 209-212Crossref Scopus (38) Google Scholar). The WGA methods applied to comprehensive screening in PGS have been DOP-PCR (38Voullaire L. Wilton L. Slater H. Williamson R. Detection of aneuploidy in single cells using comparative genomic hybridization.Prenat Diagn. 1999; 19: 846-851Crossref PubMed Scopus (106) Google Scholar, 39Wells D. Delhanty J.D. Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization.Mol Hum Reprod. 2000; 6: 1055-1062Crossref PubMed Scopus (403) Google Scholar, 40Wilton L. Voullaire L. Sargeant P. Williamson R. McBain J. Preimplantation aneuploidy screening using comparative genomic hybridization or fluorescence in situ hybridization of embryos from patients with recurrent implantation failure.Fertil Steril. 2003; 80: 860-868Abstract Full Text Full Text PDF PubMed Scopus (139) Google Scholar, 41Hu D.G. Webb G. Hussey N. Aneuploidy detection in single cells using DNA array–based comparative genomic hybridization.Mol Hum Reprod. 2004; 10: 283-289Crossref PubMed Scopus (82) Google Scholar), but also MDA (42Hellani 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: 841-847Abstract Full Text PDF PubMed Scopus (105) Google Scholar). The first reports of WGA using DOP-PCR applied to PGS (both CGH and aCGH) showed 89%–93% of samples properly amplified with a reliable diagnosis (38Voullaire L. Wilton L. Slater H. Williamson R. Detection of aneuploidy in single cells using comparative genomic hybridization.Prenat Diagn. 1999; 19: 846-851Crossref PubMed Scopus (106) Google Scholar, 39Wells D. Delhanty J.D. Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization.Mol Hum Reprod. 2000; 6: 1055-1062Crossref PubMed Scopus (403) Google Scholar, 40Wilton L. Voullaire L. Sargeant P. Williamson R. McBain J. Preimplantation aneuploidy screening using comparative genomic hybridization or fluorescence in situ hybridization of embryos from patients with recurrent implantation failure.Fertil Steril. 2003; 80: 860-868Abstract Full Text Full Text PDF PubMed Scopus (139) Google Scholar, 41Hu D.G. Webb G. Hussey N. Aneuploidy detection in single cells using DNA array–based comparative genomic hybridization.Mol Hum Reprod. 2004; 10: 283-289Crossref PubMed Scopus (82) Google Scholar). After that, other authors proposed MDA as a more reliable method for WGA with high yield and fidelity. MDA is an isothermal method that gives relatively unbiased amplification and amplification products higher in size than PCR-based methods (43Spits C. le Caignec C. de Rycke M. van Haute L. van Steirteghem A. Liebaers I. et al.Optimization and evaluation of single-cell whole-genome multiple displacement amplification.Hum Mutat. 2006; 27: 496-503Crossref PubMed Scopus (121) Google Scholar). Currently, commercially available PCR-based WGA methods have improved the WGA step for PGD/PGS, achieving 97%–99% of amplification efficiency when applied to single blastomeres (28Mir P. Rodrigo L. Mateu E. Mercader A. Escrich L. Buendia P. et al.Accuracy rates in biopsies performed on day-3 and day-5 embryos using CGH array technology for PGS.Reprod Biomed Online. 2012; 24: S42Abstract Full Text PDF Google Scholar, 44Gutierrez-Mateo C. Colls P. Sanchez-Garcia J. Escudero T. Prates R. Ketterson K. et al.Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos.Fertil Steril. 2011; 95: 953-958Abstract Full Text Full Te" @default.
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• W2123746912 title "The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening" @default.
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