The why, the how and the when of PGS 2.0: Current practices and expert opinions of fertility specialists, molecular biologists, and embryologists

Molecular Human Reproduction

Volumn 22, Issue 8, 2016, Pages 545-557

  Sermon, Karen ^a   Capalbo, Antonio ^b   Cohen, Jacques ^c   Coonen, Edith ^d   DeRycke, Martine ^e   DeVos, Anick ^f   Delhanty, Joy ^g   Fiorentino, Francesco ^h   Gleicher, Norbert ^i,j,k   Griesinger, Georg ^l   Grifo, Jamie ^m   Handyside, Alan ^n,o   Harper, Joyce ^g   Kokkali, Georgia ^p   Mastenbroek, Sebastiaan ^q   Meldrum, David ^r   Meseguer, Marcos ^s   Montag, Markus ^t   Munne, Santiago ^u   Rienzi, Laura ^v   Rubio, Carmen ^w   Scott, Katherine ^x   Scott, Richard ^y   Simon, Carlos ^w,z,aa   Swain, Jason ^ab   Treff, Nathan ^y   Ubaldi, Filippo ^v   Vassena, Rita ^ac   Verpoest W , Willem ^ad   Vermeesch, Joris Robert ^f   Wells, Dagan ^u,ae   Geraedts, Joep ^d   more..

^a VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

^b Gruppo Salus   (Italy)

^c WALTER REED ARMY MEDICAL CENTER   (United States)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^f CENTRE FOR REPRODUCTIVE MEDICINE   (Belgium)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h GENOMA Molecular Genetics Laboratory   (Italy)

ⁱ CENTER FOR HUMAN REPRODUCTION   (United States)

^j Foundation for Reproductive Medicine   (United States)

^k ROCKEFELLER UNIVERSITY   (United States)

^l UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^m NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

ⁿ Bridge Centre   (United Kingdom)

^o ILLUMINA INC   (United States)

^p Centre for Reproductive Fertility and Genetics   (Greece)

^q UNIVERSITY OF AMSTERDAM   (Netherlands)

^r UNIVERSITY OF CALIFORNIA   (United States)

^s INSTITUTO VALENCIANO DE INFERTILIDAD   (Spain)

^t Ilabcomm GmbH   (Germany)

^u Reprogenetics LLC   (United States)

^v Valle Giulia Clinic   (Italy)

^w UNIVERSITY OF VALENCIA   (Spain)

^x Foundation for Embryonic Competence   (United States)

^y RMA of New Jersey   (United States)

^z Instituto Universitario IVI INCLIVA   (Spain)

^aa IGenomix   (Spain)

^ab CCRM IVF Laboratory Network   (United States)

^ac Clinica EUGIN   (Spain)

^ad UNIVERSITY OF LEUVEN   (Belgium)

^ae UNIVERSITY OF OXFORD   (United Kingdom)

more..

Author keywords

Array comparative genomic hybridization; Blastocyst biopsy; Chromosomal abnormalities; Massive parallel sequencing; Preimplantation embryo; Preimplantation genetic screening; Vitrification

Indexed keywords

ANEUPLOIDY; ARTICLE; BIOPSY; BLASTOCYST; BLASTOCYST BIOPSY; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; FERTILIZATION IN VITRO; GENETIC SCREENING; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; LIVE BIRTH; MALE INFERTILITY; MASSIVE PARALLEL SEQUENCING; MATERNAL AGE; MOSAICISM; OVARY HYPERSTIMULATION; POLYMERASE CHAIN REACTION; PREIMPLANTATION GENETIC DIAGNOSIS; PRIORITY JOURNAL; RECURRENT ABORTION; SEQUENCE ANALYSIS; SINGLE EMBRYO TRANSFER; SINGLE NUCLEOTIDE POLYMORPHISM; VITRIFICATION; CYTOLOGY; EXPERT WITNESS; FEMALE; METABOLISM; NIDATION; PREGNANCY; PROCEDURES;

ANEUPLOIDY; BLASTOCYST; COMPARATIVE GENOMIC HYBRIDIZATION; EMBRYO IMPLANTATION; EXPERT TESTIMONY; FEMALE; GENETIC TESTING; HUMANS; PREGNANCY; PREIMPLANTATION DIAGNOSIS;

EID: 84983349229     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gaw034     Document Type: Article

References (76)

1. Bono S, Biricik A, Spizzichino L, Nuccitelli A, Minasi MG, Greco E, Spinella F, Fiorentino F. Validation of a semiconductor next-generation sequencingbased protocol for preimplantation genetic diagnosis of reciprocal translocations. Prenat Diagn 2015;35:938-944.
2. Capalbo A,Wright G, Elliott T, Ubaldi FM, Rienzi L, Nagy ZP. 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.
3. Capalbo A, Rienzi L, Cimadomo D, Maggiulli R, Elliott T,Wright G, Nagy ZP, Ubaldi FM. Correlation between standard blastocyst morphology, euploidy and implantation: an observational study in two centers involving 956 screened blastocysts. Hum Reprod 2014;29:1173-1181.
4. Capalbo A, Treff NR, Cimadomo D, Tao X, Upham K, Ubaldi FM, Rienzi L, Scott RT. Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies. Eur J Hum Genet 2015a;23:901-906.
5. Capalbo A, Ubaldi FM, Cimadomo D, Maggiulli R, Patassini C, Dusi L, Sanges F, Buffo L, Venturella R, Rienzi L. Consistent and reproducible outcomes of blastocyst biopsy and aneuploidy screening across different biopsy practitioners: a multicentre study involving 2586 embryo biopsies. Hum Reprod 2015b;31:199-208.
6. Chang J, Boulet SL, Jeng G, Flowers L, Kissin DM. 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.
7. Chow JFC, Yeung WSB, Lau EYL, Lee VCY, Ng EHY, Ho P-C. Array comparative genomic hybridization analyses of all blastomeres of a cohort of embryos from young IVF patients revealed significant contribution of mitotic errors to embryo mosaicism at the cleavage stage. Reprod Biol Endocrinol 2014;12:105.
8. Dahdouh EM, Balayla J, Garciá-Velasco JA. Impact of blastocyst biopsy and comprehensive chromosome screening technology on preimplantation genetic screening: a systematic review of randomized controlled trials. Reprod Biomed Online 2015;30:281-289.
9. De Rycke M, Belva F, Goossens V, Moutou C, SenGupta SB, Traeger-Synodinos J, Coonen E. 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.
10. De Vos A, Van Steirteghem A. Aspects of biopsy procedures prior to preimplantation genetic diagnosis. Prenat Diagn 2001;21:767-780.
11. DeleyeL,DheedeneA,DeConinckD,SanteT,ChristodoulouC,Heindryckx B, Van Den Abbeel E, De Sutter P, Deforce D, Menten B 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.
12. Desmyttere S, De Rycke M, Staessen C, Liebaers I, De Schrijver F, Verpoest W, Haentjens P, Bonduelle M. Neonatal follow-up of 995 consecutively born children after embryo biopsy for PGD. Hum Reprod 2012;27:288-293.
13. Diez-Juan A, Rubio C, Marin C, Martinez S, Al-Asmar N, Riboldi M, Diaz-Gimeno P, Valbuena D, Simon C. Mitochondrial DNA content as a viability score in human euploid embryos?: less is better. Fertil Steril 2015; 104:534-541.
14. Dondorp W, de Wert G, Innovative reproductive technologies: risks and responsibilities. Hum Reprod 2011;26:1604-1608.
15. Esfandiari N, Bentov Y, Sultan AM, Dela Cruz D, Gokturk A, Casper RF. Trophectoderm biopsy for aneuploidy screening and conflicting test results. Fertil Steril 2013;100 Supp:S133.
16. Ethics Comittee of the American Society for Reproductive Medicine. Moving innovation to practice: a committee opinion. Fertil Steril 2015;104:39-42.
17. Fiorentino F. Array comparative genomic hybridization: its role in preimplantation genetic diagnosis. Curr Opin Obstet Gynecol 2012; 24:203-209.
18. Fiorentino F, Spizzichino L, Bono S, Biricik A, Kokkali G, Rienzi L, Ubaldi FM, Iammarrone E, Gordon A, Pantos K.PGDfor reciprocal and Robertsonian translocations using array comparative genomic hybridization.HumReprod 2011;26:1925-1935.
19. Fiorentino F, Biricik A, Bono S, Spizzichino L, Cotroneo E, Cottone G, Kokocinski F, Michel C-E. Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos. Fertil Steril 2014a;101:1375-1382.e2.
20. Fiorentino F, Bono S, Biricik A, Nuccitelli A, Cotroneo E, Cottone G, Kokocinski F, Michel C-E, Minasi MG, Greco E. Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles. Hum Reprod 2014b;29:2802-2813.
21. Fiorentino F, Bono S, Biricik A, Nuccitelli A, Cotroneo E, Cottone G, Kokocinski F, Michel C-E, Minasi MG, Greco E. Reply: Which blastocysts should be considered for genetic screening? Hum Reprod 2015; 30:1744-1745.
22. Forman EJ, Hong KH, Ferry KM, Tao X, Taylor D, Levy B, Treff NR, Scott RT. In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial. Fertil Steril 2013a;100:100-107.e1.
23. Forman EJ, Upham KM, Cheng M, Zhao T, Hong KH, Treff NR, Scott RT. Comprehensive chromosome screening alters traditional morphologybased embryo selection: a prospective study of 100 consecutive cycles of planned fresh euploid blastocyst transfer. Fertil Steril 2013b;100: 718-724.
24. Fragouli E, Spath K, Alfarawati S, Kaper F, Craig A, Michel C-E, Kokocinski F, Cohen J, Munne S, Wells D. 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.
25. Geraedts J, Sermon K. Preimplantation genetic screening (PGS) 2.0: the theory. Mol Hum Reprod 2016. doi:10.1093/molehr/gaw033.
26. Gleicher N, Barad DH.Areview of, and commentary on, the ongoing second clinical introduction of preimplantation genetic screening (PGS) to routine IVF practice. J Assist Reprod Genet 2012;29:1159-1166.
27. Gleicher N, Kushnir VA, Barad DH. Preimplantation genetic screening (PGS) still in search of a clinical application: a systematic review. Reprod Biol Endocrinol 2014;12:22.
28. Gleicher N, Vidali A, Braverman J, Kushnir VA, Albertini DF, Barad DH. Further evidence against use of PGS in poor prognosis patients: report of normal births after transfer of embryos reported as aneuploid. Fertil Steril 2015;104(Suppl 3):e9.
29. Gøtzsche PC, Hró bjartsson A, Johansen HK, Haahr MT, Altman DG, Chan A-W. Ghost authorship in industry-initiated randomised trials. PLoS Med 2007;4:e19.
30. Greco E, Minasi MG, Fiorentino F. Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts. N Engl J Med 2015;373:2089-2090.
31. 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.
32. Grifo J,Hodes-Wertz B, Lee HL,Amperloquio E,Clarke-Williams M, Adler A. Single thawedeuploidembryotransferimprovesIVF pregnancy, miscarriage, and multiple gestation outcomes and has similar implantation rates as egg donation. J Assist Reprod Genet 2013;30:259-264.
33. Grifo J,Kofinas J, SchoolcraftWB. The practice of in vitro fertilization according to the published literature. Fertil Steril [Internet] 2014;102:658-659.
34. Gutiérrez-Mateo C, Colls P, Sánchez-Garciá J, Escudero T, Prates R, Ketterson K, Wells D, Munné S. Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril 2011;95:953-958.
35. Hodes-Wertz B, Grifo J, Ghadir S, Kaplan B, Laskin C, Glassner M, Munné S. Idiopathic recurrent miscarriage is caused mostly by aneuploid embryos. Fertil Steril 2012;98:675-680.
36. Honguntikar SD, Uppangala S, Salian SR, Kalthur G, Kumar P, Adiga SK. Laser-assisted hatching of cleavage-stage embryos impairs developmental potential and increases DNA damage in blastocysts. Lasers Med Sci 2015;30:95-101.
37. Jacobs K, Mertzanidou A, Geens M, Thi Nguyen H, Staessen C, Spits C. Low-grade chromosomal mosaicism in human somatic and embryonic stem cell populations. Nat Commun 2014;5:4227.
38. Jones GM, Cram DS, Song B, Kokkali G, Pantos K, Trounson AO. Novel strategy with potential to identify developmentally competent IVF blastocysts. Hum Reprod 2008;23:1748-1759.
39. Konstantinidis M, Prates R, Goodall N-N, Fischer J, Tecson V, Lemma T, Chu B, Jordan A, Armenti E, Wells D et al. Live births following Karyomapping of human blastocysts: experience from clinical application of the method. Reprod Biomed Online 2015;31:394-403.
40. Kung A, Munné S, Bankowski B, Coates A, Wells D. Validation of next-generation sequencing for comprehensive chromosome screening of embryos. Reprod Biomed Online 2015;31:760-769.
41. Kushnir VA, Barad DH, Albertini DF, Darmon SK, Gleicher N. Outcomes of fresh and cryopreserved oocyte donation. JAMA 2015;314:623-624.
42. 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;30:473-483.
43. Macleod MR, Michie S, Roberts I, Dirnagl U, Chalmers I, Ioannidis JPA, Al-Shahi Salman R, Chan A-W, Glasziou P. Biomedical research: increasing value, reducing waste. Lancet 2014;383:101-104.
44. Magli MC, Pomante A, Cafueri G, Valerio M, Crippa A, Ferraretti AP, Gianaroli L. Preimplantation genetic testing: polar bodies, blastomeres, trophectoderm cells, or blastocoelic fluid? Fertil Steril [Internet] 2015; 105:676-683.e5.
45. Maheshwari A, Bhattacharya S. Elective frozen replacement cycles for all: ready for prime time? Hum Reprod 2013;28:6-9.
46. Mastenbroek S. One swallow does not make a summer. Fertil Steril 2013; 99:1205-1206.
47. Mastenbroek S, Repping S, Preimplantation genetic screening: back to the future. Hum Reprod 2014;29:1846-1850.
48. Mastenbroek S,TwiskM,van Echten-Arends J, Sikkema-Raddatz B,Korevaar J, Verhoeve R,Vogel N, Arts E, deVries J, BossuytPMet al. In vitro fertilization with preimplantation genetic screening. N Engl J Med 2007;357:9-17.
49. Mastenbroek S, van der Veen F, Aflatoonian A, Shapiro B, Bossuyt P, Repping S. Embryo selection in IVF. Hum Reprod 2011;26:964-966. doi:10.1093/humrep/der050
50. Mertzanidou A, Spits C, NguyenHT, Van de Velde H, Sermon K. Evolution of aneuploidy up to Day 4 of human preimplantation development. Hum Reprod 2013a;28:1716-1724.
51. Mertzanidou A, Wilton L, Cheng J, Spits C, Vanneste E, Moreau Y, Vermeesch JR, Sermon K. Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos. Hum Reprod 2013b;28:256-264.
52. Munné S,Grifo J,Wells D.Mosaicism: 'survival of the fittest' versus 'noembryo left behind'. Fertil Steril 2016. doi:10.1016/j.fertnstert.2016.01.016.
53. 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; 118-119. doi: 10.1016/j.fertnstert.2016.03.035. [Epub ahead of print].
54. Peters B, Kermani BG, Alferov O, Agarwal MR, Mcelwain M, Gulbahce N, Hayden DM, Tang YT, Zhang RY, Tearle R 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.
55. Psaty BM, Kronmal RA. Reporting mortality findings in trials of rofecoxib for Alzheimer disease or cognitive impairment: a case study based on documents from rofecoxib litigation. JAMA 2008;299:1813-1817.
56. Ross JS, Hill KP, Egilman DS, Krumholz HM. Guest authorship and ghostwriting in publications related to rofecoxib: a case study of industry documents from rofecoxib litigation. JAMA 2008;299:1800-1812.
57. Rubio C, Bellver J, Rodrigo L, Bosch E, Mercader A, Vidal C,Delos Santos MJ, Giles J, Labarta E, Domingo J 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;99:1400-1407.
58. Rubio C, Castilloń G, Rodrigo L, Bellver J, Guillen A, Remohí J, Pellicer A, Simoń C. Improvement of clinical outcome in severe male factor infertility with embryo selection based on Array-CGH: a randomized controlled trial. Fertil Steril 2014;102(Suppl):e24-e25.
59. Rubio C, Rodrigo L, Bellver J, Castillon G, Guillen A, Vidal C, Giles J, Simon C. Improved clinical outcome in women between 38 and 41 years of age by 24-chromosome aneuploidy screening. Fertil Steril 2015;104(Suppl):e58.
60. Schoolcraft WB, Surrey E, Minjarez D, Gustofson RL, Scott RT, Katz- Jaffe MG. Comprehensive chromosome screening (CCS) with vitrification results in improved clinical outcome in women .35 years: a randomized control trial. Fertil Steril 2012;98:S1.
61. Scott RT, Ferry K, Su J, Tao X, Scott K, Treff NR. Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril 2012;97:870-875.
62. Scott RT, Upham KM, Forman EJ, Hong KH, Scott KL, Taylor D, Tao X, Treff NR. 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 2013a;100:697-703.
63. Scott RT, Upham KM, Forman EJ, Zhao T, Treff NR. Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial. Fertil Steril 2013b;100:624-630.
64. Shapiro BS, Daneshmand ST, Garner FC, Aguirre M, Hudson C, Thomas S. Evidence of impaired endometrial receptivity after ovarian stimulation for in vitro fertilization: a prospective randomized trial comparing fresh and frozen-thawed embryo transfer in normal responders. Fertil Steril 2011;96:344-348.
65. Shapiro BS, Daneshmand ST, Restrepo H, Garner FC, Aguirre M, Hudson C. Matched-cohort comparison of single-embryo transfers in fresh and frozen-thawed embryo transfer cycles. Fertil Steril 2013;99:389-392.
66. Tobler KJ, Zhao Y, Ross R, Benner AT, Xu X, Du L, Broman K, Thrift K, Brezina PR, Kearns WG. Blastocoel fluid from differentiated blastocysts harbors embryonic genomic material capable of a whole-genome deoxyribonucleic acid amplification and comprehensive chromosome microarray analysis. Fertil Steril 2015;104:418-425.
67. Treff NR, Su J, Tao X, Levy B, Scott RT. Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril 2010;94:2017-2021.
68. Treff NR, Tao X, Ferry KM, Su J, Taylor D, Scott RT. 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.
69. UbaldiFM, Capalbo A,Colamaria S, Ferrero S,Maggiulli R, Vajta G, Sapienza F, CimadomoD,GiulianiM,GravottaE et al.Reductionofmultiplepregnancies in the advanced maternal age population after implementation of an elective singleembryo transferpolicy coupled with enhancedembryo selection: preand post-intervention study. Hum Reprod 2015;30:2097-2106.
70. van Echten-Arends J, Mastenbroek S, Sikkema-Raddatz B, Korevaar JC, Heineman MJ, van der Veen F, Repping S. Chromosomal mosaicism in human preimplantation embryos: a systematic review. Hum Reprod Update 2011;17:620-627.
71. Vanakker O, Vilain C, Janssens K, Van der Aa N, Smits G, Bandelier C, Blaumeiser B, Bulk S, Caberg J-H, De Leener A et al. Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. Eur J Med Genet 2014;57:151-156.
72. Vera-Rodríguez M, Michel C-E, Mercader A, Bladon AJ, Rodrigo L, Kokocinski F, Mateu E, Al-Asmar N, Blesa D, Simoń C et al. Distribution patterns of segmental aneuploidies in human blastocysts identified by next-generation sequencing. Fertil Steril 2016;105:1047-1055.
73. Wells D, Kaur K, Grifo J, Glassner M, Taylor JC, Fragouli E, Munne S. 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.
74. 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.
75. Zamani Esteki M, Dimitriadou E, Mateiu L, Melotte C, Van der Aa N, Kumar P, Das R, Theunis K, Cheng J, Legius E et al. Concurrent whole-genome haplotyping and copy-number profiling of single cells. Am J Hum Genet 2015;96:894-912.
76. Zimmerman RS, Jalas C, Tao X, Fedick AM, Kim JG, Pepe RJ, Northrop LE, Scott RT, Treff NR. 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.