Novel technologies emerging for preimplantation genetic diagnosis and preimplantation genetic testing for aneuploidy

References

• 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.
   PubMed Web of Science ®Google Scholar
• Desmyttere S, De Rycke M, Staessen C, et al. Neonatal follow-up of 995 consecutively born children after embryo biopsy for PGD. Hum Reprod. 2012;27:288–293.
   PubMed Web of Science ®Google Scholar
• Geraedts J, Sermon K. Preimplantation genetic screening 2.0: the theory. Mol Hum Reprod. 2016;22:839–844.
   PubMed Web of Science ®Google Scholar
• Capalbo A, Rienzi L, Cimadomo D, et al. Correlation between standard blastocyst morphology, euploidy and implantation: an observational study in two centers involving 956 screened blastocysts. Hum Reprod. 2014;29:1173–1181.
   PubMed Web of Science ®Google Scholar
• Capalbo A, Ubaldi FM, Cimadomo D, et al. Consistent and reproducible outcomes of blastocyst biopsy and aneuploidy screening across different biopsy practitioners: a multicentre study involving 2586 embryo biopsies. Hum Reprod. 2016;31:199–208.
   PubMed Web of Science ®Google Scholar
• Schoolcraft WB, Fragouli E, Stevens J, et al. Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril. 2010;94:1700–1706.
   PubMed Web of Science ®Google Scholar
• Scott RT, Upham KM, Forman EJ, et al. Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial. Fertil Steril. 2013;100:624–630.
   PubMed Web of Science ®Google Scholar
• Palini S, Galluzzi L, De Stefani S, et al. Genomic DNA in human blastocoele fluid. Reprod Biomed Online. 2013;26:603–610.
   PubMed Web of Science ®Google Scholar
• Gianaroli L, MaglI MC, Pomante A, et al. Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study. Fertil Steril. 2014;102:1692–9.e6.
   PubMed Web of Science ®Google Scholar
• Magli M.C., Pomante A, Cafueri G, et al. Preimplantation genetic testing: polar bodies, blastomeres, trophectoderm cells, or blastocoelic fluid?. Fertil Steril. 2016;105:676–83.e5.
   PubMed Web of Science ®Google Scholar
• De Rycke M, Belva F, Goossens V, et al. ESHRE PGD Consortium data collection XIII: cycles from January to December 2010 with pregnancy follow-up to October 2011. Hum Reprod. 2015;30:1763–1789.
   PubMed Web of Science ®Google Scholar
• Dreesen J, Destouni A, Kourlaba G, et al. Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study. Eur J Hum Genet. 2014;22:1012–1018.
   PubMed Web of Science ®Google Scholar
• Kahraman S, Beyazyurek C, Yesilipek MA, et al. Successful haematopoietic stem cell transplantation in 44 children from healthy siblings conceived after preimplantation HLA matching. Reprod Biomed Online. 2014;29:340–351.
   PubMed Web of Science ®Google Scholar
• Keymolen K, Van Berkel K, Vorsselmans A, et al. Pregnancy outcome in carriers of robertsonian translocations. Am J Med Genet A. 2011;155A:2381–2385.
   PubMed Web of Science ®Google Scholar
• Keymolen K, Staessen C, Verpoest W, et al. Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles. Eur J Hum Genet. 2012;20:376–380.
   PubMed Web of Science ®Google Scholar
• Scriven PN, Flinter FA, Khalaf Y, et al. Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study. Eur J Hum Genet. 2013;21:1035–1041.
   PubMed Web of Science ®Google Scholar
• Traeger-Synodinos J, Staessen C. In textbook of human reproductive genetics. Sermon K, Viville S, Editors. Cambridge: Cambridge University Press; 2014. p. 157–171.
   Google Scholar
• Van Echten-Arends J, Mastenbroek S, Sikkema-Raddatz B, et al. Chromosomal mosaicism in human preimplantation embryos: a systematic review. Hum Reprod Update. 2011;17:620–627.
   PubMed Web of Science ®Google Scholar
• Harper JC, Wilton L, Traeger-Synodinos J, et al. The ESHRE PGD consortium: 10 years of data collection. Hum Reprod Update. 2012;18:234–247.
   PubMed Web of Science ®Google Scholar
• Sermon K, Capalbo A, Cohen J, et al. The why, the how and the when of PGS 2.0: current practices and expert opinions of fertility specialists, molecular biologists, and embryologists. Mol Hum Reprod. 2016;22:845–857.
   PubMed Web of Science ®Google Scholar
• Staessen C, Platteau P, Van Assche E, 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;19:2849–2858.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Debrock S, Melotte C, Spiessens C, et al. Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial. Fertil Steril. 2010;93:364–373.
   PubMed Web of Science ®Google Scholar
• Mastenbroek S, Twisk M, Van Der Veen F, et al. Preimplantation genetic screening: a systematic review and meta-analysis of RCTs. Hum Reprod Update. 2011;17:454–466.
   PubMed Web of Science ®Google Scholar
• Braude P, Flinter F. Use and misuse of preimplantation genetic testing. Bmj. 2007;335:752–754.
   PubMed Web of Science ®Google Scholar
• Vanneste E, Voet T, Le Caignec C, et al. Chromosome instability is common in human cleavage-stage embryos. Nat Med. 2009;15:577–583.
   PubMed Web of Science ®Google Scholar
• Mertzanidou A, Wilton L, Cheng J, et al. Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos. Hum Reprod. 2013;28:256–264.
   PubMed Web of Science ®Google Scholar
• Mertzanidou A, Spits C, Nguyen HT, et al. Evolution of aneuploidy up to day 4 of human preimplantation development. Hum Reprod. 2013;28:1716–1724.
   PubMed Web of Science ®Google Scholar
• Capalbo A, Ubaldi FM, Rienzi L, et al. Detecting mosaicism in trophectoderm biopsies: current challenges and future possibilities. Hum Reprod. 2016. DOI:10.1093/humrep/dew250.
   Google Scholar
• Fragouli E, Alfarawati S, Goodall -N-N, et al. The cytogenetics of polar bodies: insights into female meiosis and the diagnosis of aneuploidy. Mol Hum Reprod. 2011;17:286–295.
   PubMed Web of Science ®Google Scholar
• Voullaire L, Slater H, Williamson R, et al. Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet. 2000;106:210–217.
   PubMed Web of Science ®Google Scholar
• Wong KM, Mastenbroek S, Repping S. Cryopreservation of human embryos and its contribution to in vitro fertilization success rates. Fertil Steril. 2014;102:19–26.
   PubMed Web of Science ®Google Scholar
• 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;28:2298–2307.
   PubMed Web of Science ®Google Scholar
• Grifo J, Kofinas J, Schoolcraft WB. The practice of in vitro fertilization according to the published literature. Fertil Steril. 2014;102:658–659.
   PubMed Web of Science ®Google Scholar
• Chang J, Boulet SL, Jeng G, et al. Outcomes of in vitro fertilization with preimplantation genetic diagnosis: an analysis of the Unites States assisted reproductive technology surveillance data, 2011-2012. Fertil Steril. 2016;105:394–400.
   PubMed Web of Science ®Google Scholar
• Yang Z, Liu J, Collins GS, et al. 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 Cytogenet. 2012;5:24.
   PubMed Web of Science ®Google Scholar
• Scott RT, Upham KM, Forman EJ, et al. Blastocyst biopsy with comprehensive chromosome screening and fresh embryo transfer significantly increases in vitro fertilization implantation and delivery rates: a randomized controlled trial. Fertil Steril. 2013;100:697–703.
   PubMed Web of Science ®Google Scholar
• Forman EJ, Hong KH, Ferry KM, et al. In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial. Fertil Steril. 2013;100:100–7.e1.
   PubMed Web of Science ®Google Scholar
• Mastenbroek S, Repping S. Preimplantation genetic screening: back to the future. Hum Reprod. 2014;29:1846–1850.
   PubMed Web of Science ®Google Scholar
• Griesinger G. Beware of the “implantation rate”! Why the outcome parameter “implantation rate” should be abandoned from infertility research. Hum Reprod. 2016;31:249–251.
   PubMed Web of Science ®Google Scholar
• Paulson RJ. Every last baby out of every last egg: the appropriate goal for fertility treatment in women older than 40 years. Fertil Steril. 2016;105:1443–1444.
   PubMed Web of Science ®Google Scholar
• Greco E, Minasi MG, Fiorentino F. Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts. N Engl J Med. 2015;373:2089–2090.
   PubMed Web of Science ®Google Scholar
• Treff NR, Su J, Tao X, et al. Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril. 2010;94:2017–2021.
   PubMed Web of Science ®Google Scholar
• Treff NR, Su J, Tao X, et al. Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses. Mol Hum Reprod. 2011;17:335–343.
   PubMed Web of Science ®Google Scholar
• Scott RT, Ferry K, Su J, et al. Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril. 2012;97:870–875.
   PubMed Web of Science ®Google Scholar
• Handyside AH, Harton GL, Mariani B, et al. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet. 2010;47:651–658.
   PubMed Web of Science ®Google Scholar
• Natesan SA, Bladon AJ, Coskun S, et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet Med. 2014;16:838–845.
   PubMed Web of Science ®Google Scholar
• Konstantinidis M, Prates R, Goodall -N-N, et al. Live births following karyomapping of human blastocysts: experience from clinical application of the method. Reprod Biomed Online. 2015;31:394–403.
   PubMed Web of Science ®Google Scholar
• Johnson DS, Gemelos G, Baner J, et al. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum Reprod. 2010;25:1066–1075.
   PubMed Web of Science ®Google Scholar
• Demko ZP, Simon AL, McCoy RC, et al. Effects of maternal age on euploidy rates in a large cohort of embryos analyzed with 24-chromosome single-nucleotide polymorphism-based preimplantation genetic screening. Fertil Steril. 2016;105:1307–1313.
   PubMed Web of Science ®Google Scholar
• Zamani Esteki M., Dimitriadou E, Mateiu L, et al Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells. Am J Hum Genet. 2015;96:894–912.
   PubMed Web of Science ®Google Scholar
• Van Uum CMJ, Stevens SJ, Dreesen JC, et al. SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations. Eur J Hum Genet. 2012;20(9):938–944.
   PubMed Web of Science ®Google Scholar
• Idowu D, Merrion K, Wemmer N, et al. Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations. Fertil Steril. 2015;103:1037–1042.
   PubMed Web of Science ®Google Scholar
• Treff NR, Thompson K, Rafizadeh M, et al. SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts. J Assist Reprod Genet. 2016;33:1115–1119.
   PubMed Web of Science ®Google Scholar
• Vanneste E, Melotte C, Voet T, et al. PGD for a complex chromosomal rearrangement by array comparative genomic hybridization. Hum Reprod. 2011;26:941–949.
   PubMed Web of Science ®Google Scholar
• Gutiérrez-Mateo C, Colls P, Sánchez-García J, et al. Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril. 2011;95:953–958.
   PubMed Web of Science ®Google Scholar
• Tiegs AW, Hodes-Wertz B, McCulloh DH, et al. Discrepant diagnosis rate of array comparative genomic hybridization in thawed euploid blastocysts. J Assist Reprod Genet. 2016;33:893–897.
   PubMed Web of Science ®Google Scholar
• Fiorentino F, Spizzichino L, Bono S, et al. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod. 2011;26:1925–1935.
   PubMed Web of Science ®Google Scholar
• Alfarawati S, Fragouli E, Colls P, et al. First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis. Hum Reprod. 2011;26:1560–1574.
   PubMed Web of Science ®Google Scholar
• Magli MC, Montag M, Koster M, et al. Polar body array CGH for prediction of the status of the corresponding oocyte. Part II: technical aspects. Hum Reprod. 2011;26:3181–3185.
   PubMed Web of Science ®Google Scholar
• Geraedts J, Montag M, Magli MC, et al. Polar body array CGH for prediction of the status of the corresponding oocyte. Part I: clinical results. Hum Reprod. 2011;26:3173–3180.
   PubMed Web of Science ®Google Scholar
• 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;26:480–490.
   PubMed Web of Science ®Google Scholar
• Minasi MG, Colasante A, Riccio T, et al. Correlation between aneuploidy, standard morphology evaluation and morphokinetic development in 1730 biopsied blastocysts: a consecutive case series study. Hum Reprod. 2016;31:2245–2254. DOI:10.1093/humrep/dew183.
   PubMed Web of Science ®Google Scholar
• Treff NR, Tao X, Ferry KM, et al. Development and validation of an accurate quantitative real-time polymerase chain reaction-based assay for human blastocyst comprehensive chromosomal aneuploidy screening. Fertil Steril. 2012;97:819–824.
   PubMed Web of Science ®Google Scholar
• Forman EJ, Upham KM, Cheng M, et al. Comprehensive chromosome screening alters traditional morphology-based embryo selection: a prospective study of 100 consecutive cycles of planned fresh euploid blastocyst transfer. Fertil Steril. 2013;100:718–724.
   PubMed Web of Science ®Google Scholar
• Werner M.D., Leondires MP, Schoolcraft WB, et al. Clinically recognizable error rate after the transfer of comprehensive chromosomal screened euploid embryos is low. Fertil Steril. 2014;102:1613–1618.
   PubMed Web of Science ®Google Scholar
• Capalbo A, Treff NR, Cimadomo D, et al. Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies. Eur J Hum Genet. 2015;23:901–906.
   PubMed Web of Science ®Google Scholar
• Deleye L, Dheedene A, De Coninck D, et al. Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts. Fertil Steril. 2015;104:1276–1285.e1.
   PubMed Web of Science ®Google Scholar
• Zhang C, Zhang C, Chen S, et al. A Single Cell Level Based Method for Copy Number Variation Analysis by Low Coverage Massively Parallel Sequencing. Plos One. 2013;8. DOI:10.1371/journal.pone.0054236
   Web of Science ®Google Scholar
• 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;101:1375–1382.e2.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Vera-Rodríguez M, Michel C-E, Mercader A, et al. Distribution patterns of segmental aneuploidies in human blastocysts identified by next-generation sequencing. Fertil Steril. 2016;105:1047–1055.
   PubMed Web of Science ®Google Scholar
• 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;51:553–562.
   PubMed Web of Science ®Google Scholar
• Fragouli E, Spath K, Alfarawati S, et al. Altered levels of mitochondrial DNA are associated with female age, aneuploidy, and provide an independent measure of embryonic implantation potential. PLOS Genet. 2015;11:e1005241.
   PubMed Web of Science ®Google Scholar
• Bono S, Biricik A, Spizzichino L, et al. Validation of a semiconductor next-generation sequencing-based protocol for preimplantation genetic diagnosis of reciprocal translocations. Prenat Diagn. 2015;35:938–944.
   PubMed Web of Science ®Google Scholar
• Kung A, Munné S, Bankowski B, et al. Validation of next-generation sequencing for comprehensive chromosome screening of embryos. Reprod Biomed Online. 2015;31:760–769.
   PubMed Web of Science ®Google Scholar
• Peters BA, Kermani BG, Alferov O, et al. Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing. Genome Res. 2015;25:426–434.
   PubMed Web of Science ®Google Scholar
• Metzker ML, Sequencing technologies - the next generation., Nat Rev Genet 11, 31–46 (2010).
   PubMed Web of Science ®Google Scholar
• Harton GL, De Rycke M, Fiorentino F, et al. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod. 2011;26:33–40.
   PubMed Web of Science ®Google Scholar
• Girardet A, Viart V, Plaza S, et al. The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus. Eur J Hum Genet. 2016;24:469–478.
   PubMed Web of Science ®Google Scholar
• Renwick P, Trussler J, Lashwood A, et al. Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod Biomed Online. 2010;20:470–476.
   PubMed Web of Science ®Google Scholar
• Zimmerman RS, Jalas C, Tao X, et al. Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole-genome amplification. Fertil Steril. 2016;105:286–294.
   PubMed Web of Science ®Google Scholar
• Kumar P, Zamani Esteki M, Van Der Aa N, et al. In textbook of human reproductive genetics. Sermon K, Viville S, Editors. Cambridge: Cambridge University Press; 2014. p. 15–32.
   Google Scholar
• Meseguer M, Herrero J, Tejera A, et al. The use of morphokinetics as a predictor of embryo implantation. Hum Reprod. 2011;26:2658–2671.
   PubMed Web of Science ®Google Scholar
• Chavez SL, Loewke KE, Han J, et al. Dynamic blastomere behaviour reflects human embryo ploidy by the four-cell stage. Nat Commun. 2012;3:1251.
   PubMed Web of Science ®Google Scholar
• Vera-Rodriguez M, Chavez SL, Rubio C, et al. Prediction model for aneuploidy in early human embryo development revealed by single-cell analysis. Nat Commun. 2015;6:7601.
   PubMed Web of Science ®Google Scholar
• Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet. 2010;11:31–46.
   PubMed Web of Science ®Google Scholar
• Gilissen C, Hoischen A, Brunner HG, et al. Disease gene identification strategies for exome sequencing. Eur J Hum Genet. 2012;20:490–497.
   PubMed Web of Science ®Google Scholar
• Moorthie S, Mattocks CJ, Wright CF. Review of massively parallel DNA sequencing technologies. Hugo J. 2011;5:1–12.
   PubMedGoogle Scholar
• Bianchi DW, Wilkins-Haug L. Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin Chem. 2014;60:78–87.
   PubMed Web of Science ®Google Scholar
• Rhoads A, Au KF. PacBio sequencing and its applications. Genomics, Proteomics Bioinforma. 2015;13:278–289.
   PubMed Web of Science ®Google Scholar
• Hens K, Dondorp WJ, Geraedts JPM, et al. Comprehensive embryo testing. Experts’ opinions regarding future directions: an expert panel study on comprehensive embryo testing. Hum Reprod. 2013;28:1418–1425.
   PubMed Web of Science ®Google Scholar
• Macaulay IC, Haerty W, Kumar P, et al. G&T-seq : parallel sequencing of single- cell genomes and transcriptomes. Nat Methods. 2015;12:1–7.
   PubMed Web of Science ®Google Scholar
• Murugappan G, Shahine LK, Perfetto CO, et al. Intent to treat analysis of in vitro fertilization and preimplantation genetic screening versus expectant management in patients with recurrent pregnancy loss. Hum Reprod. 2016;31:1668–1674.
   PubMed Web of Science ®Google Scholar
• Kleijkers SHM, Mantikou E, Slappendel E, et al. Influence of embryo culture medium (G5 and HTF) on pregnancy and perinatal outcome after IVF: a multicenter RCT. Hum Reprod. 2016;31:2219–2230. DOI:10.1093/humrep/dew156.
   PubMed Web of Science ®Google Scholar
• Sunde A, Brison D., Dumoulin J., et al. Time to take human embryo culture seriously. Hum Reprod. 2016;0:dew157.
   Google Scholar