Non Invasive Preimplantation Testing for Aneuploidies in Assisted Reproduction: A SWOT Analysis

Minasi MG, Colasante A, Riccio T, Ruberti A, Casciani V, Scarselli F, et al. Correlation between aneuploidy, standard morphology evaluation and morphokinetic development in 1730 biopsied blastocysts: a consecutive case series study. Hum Reprod. 2016;31:2245–54.

Article  PubMed  Google Scholar 

SEF Registry 2020 [Internet]. 2020 [cited 2023 Sep 26]. https://www.registrosef.com/

Capalbo A, Rienzi L, Cimadomo D, Maggiulli R, Elliott T, Wright G, et al. Correlation between standard blastocyst morphology, euploidy and implantation: an observational study in two centers involving 956 screened blastocysts. Hum Reprod. 2014;29:1173–81.

Article  PubMed  Google Scholar 

Rubio IMM, Galán A, Larreategui Z, Ayerdi F, Bellver J, Herrero J, Meseguer M. Clinical validation of embryo culture and selection by morphokinetic analysis: a randomized, controlled trial of the EmbryoScope. Fertil Steril. 2014;102(5):1287–1294e5.

Barnes J, Brendel M, Gao VR, Rajendran S, Kim J, Li Q, et al. A non-invasive artificial intelligence approach for the prediction of human blastocyst ploidy: a retrospective model development and validation study. Lancet Digit Health. 2023;5:e28–40.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kieslinger DCES, Vergouw CG, Ramos L, Arends B, Curfs MHJM et al. Clinical outcomes of uninterrupted embryo culture with or without time-lapse-based embryo selection versus interrupted standard culture (SelecTIMO): a three-armed, multicentre, double-blind randomised controlled trial. 2023;401(10386):1438–446

Armstrong S, Bhide P, Jordan V, Pacey A, Farquhar C. Time-lapse systems for embryo incubation and assessment in assisted. Time-lapse systems for embryo incubation and assessment in assisted reproduction. 2019; Cochrane Database Syst Rev. 2019;5(5).

Fiorentino FMC, Biricik A, Bono S, Spizzichino L, Cotroneo E, Cottone G, Kokocinski F. Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos. Fertil Steril. 2014;101:1375–82.

Article  CAS  PubMed  Google Scholar 

Cimadomo D, Capalbo A, Ubaldi F, Scarica C, Palagiano A, Canipari R, Rienzi L. The impact of biopsy on human embryo developmental potential during preimplantation genetic diagnosis. Biomed Res Int. 2016;1:7193075.

ESHRE PGT. Consortium good practice recommendations for the organisation of PGT. 2020.

Lledo B, Morales R, Antonio Ortiz J, Bernabeu A, Bernabeu R. Noninvasive preimplantation genetic testing using the embryo spent culture medium: an update. Curr Opin Obstet Gynecol [Internet] 5 de mayo de 2023 [Internet]. 2023; https://journals.lww.com/https://doi.org/10.1097/GCO.0000000000000881

Capalbo A, Ubaldi FM, Cimadomo D, Maggiulli R, Patassini C, Dusi L, 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.

Article  PubMed  Google Scholar 

Neal SASJ, Morin, TS, Franasiak JM, Goodman LR, Forman CR, Marie EJ, Werner D, Scott MD Jr. R T. Preimplantation genetic testing for aneuploidy is cost-effective, shortens treatment time, and reduces the risk of failed embryo transfer and clinical miscarriage. Fertil Steril Vol 110 No 5 Oct 2018Pg 896–904 [Internet]. 2018; Available from: https://doi.org/10.1016/j.fertnstert.2018.06.021

Zhang WY, von Versen-Höynck F, Kapphahn KI, Fleischmann RR, Zhao Q, Baker VL. Maternal and neonatal outcomes associated with trophectoderm biopsy. Fertil Steril [Internet]. 2019 [cited 2024 Jan 27];112:283–290.e2. https://www.sciencedirect.com/science/article/pii/S0015028219303164

Makhijani R, Bartels CB, Godiwala P, Bartolucci A, DiLuigi A, Nulsen J et al. Impact of trophectoderm biopsy on obstetric and perinatal outcomes following frozen–thawed embryo transfer cycles. Hum Reprod [Internet]. 2021 [cited 2024 Jan 27];36:340–8. https://doi.org/10.1093/humrep/deaa316

Munné S, Kaplan B, Frattarelli JL, Child T, Nakhuda G, Shamma FN, Silverberg K, Kalista T, Handyside AH, Katz-Jaffe M, Wells D, Gordon T, Stock-Myer S. Pre- implantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen-thawed embryo transfer in good-prognosis patients: a multicenter randomized clinical trial. Fertil Steril 2019;112(6):1071–1079.e7 [Internet]. 2019; https://doi.org/10.1016/j.fertnstert.2019.07.1346

Sanders KD, Silvestri G, Gordon T, Griffin DK. Analysis of IVF live birth outcomes with and without preimplantation genetic testing for aneuploidy (PGT-A): UK Human Fertilisation and Embryology Authority data collection 2016–2018. J Assist Reprod Genet [Internet]. 2021 [cited 2023 Jun 24];38:3277–85. https://link.springer.com/https://doi.org/10.1007/s10815-021-02349-0

Shamonki MI, Jin H, Haimowitz Z, Liu L. Proof of concept: preimplantation genetic screening without embryo biopsy through analysis of cell-free DNA in spent embryo culture media. Fertil Steril [Internet]. 2016 [cited. 2023;106:1312–8. https://linkinghub.elsevier.com/retrieve/pii/S0015028216625505

Xu J, Fang R, Chen L, Chen D, Xiao J-P, Yang W et al. Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization. Proc Natl Acad Sci [Internet]. 2016 [cited 2023 Jun 24];113:11907–12. https://doi.org/10.1073/pnas.1613294113

Feichtinger M, Vaccari E, Carli L, Wallner E, Mädel U, Figl K, et al. Non-invasive preimplantation genetic screening using array comparative genomic hybridization on spent culture media: a proof-of-concept pilot study. Reprod Biomed Online. 2017;34:583–9.

Article  PubMed  Google Scholar 

Vera-Rodriguez M, Diez-Juan A, Jimenez-Almazan J, Martinez S, Navarro R, Peinado V et al. Origin and composition of cell-free DNA in spent medium from human embryo culture during preimplantation development. Hum Reprod [Internet]. 2018 [cited 2023 Jun 24];33:745–56. https://academic.oup.com/humrep/article/33/4/745/4879234

Cimadomo D, Rienzi L, Capalbo A, Rubio C, Innocenti F, García-Pascual CM, Ubaldi FM, Handyside A. The dawn of the future: 30 years from the first biopsy of a human embryo. The detailed history of an ongoing revolution. Hum Reprod Update. 2020;Vol.26, No.4, pp. 453–473, 2020.

Vendrell X, Escribà M-J, Non-invasive PGT. Med Reprod Embriología Clínica [Internet]. 2021 [cited 2023 Jun 24];8:100101. https://linkinghub.elsevier.com/retrieve/pii/S2340932021000116

Huang B, Luo X, Wu R, Qiu L, Lin S, Huang X et al. Evaluation of non-invasive gene detection in preimplantation embryos: a systematic review and meta-analysis. J Assist Reprod Genet [Internet]. 2023 [cited 2023 Jun 24]; https://link.springer.com/https://doi.org/10.1007/s10815-023-02760-9

Hawke DC, Watson AJ, Betts DH. Extracellular vesicles, microRNA and the preimplantation embryo: non-invasive clues of embryo well-being. Reprod Biomed Online. 2021;42:39–54.

Article  CAS  PubMed  Google Scholar 

Rubio C, Rienzi L, Navarro-Sánchez L, Cimadomo D, García-Pascual CM, Albricci L et al. Embryonic cell-free DNA versus trophectoderm biopsy for aneuploidy testing: concordance rate and clinical implications. Fertil Steril [Internet]. 2019 [cited 2023 Jun 24];112:510–9. https://linkinghub.elsevier.com/retrieve/pii/S0015028219304170

Lledo B, Morales R, Ortiz JA, Rodriguez-Arnedo A, Ten J, Castillo JC, et al. Consistent results of non-invasive PGT-A of human embryos using two different techniques for chromosomal analysis. Reprod Biomed Online. 2021;42:555–63.

Article  CAS  PubMed  Google Scholar 

Zhang S, Luo K, Cheng D, Tan Y, Lu C, He H, et al. Number of biopsied trophectoderm cells is likely to affect the implantation potential of blastocysts with poor trophectoderm quality. Fertil Steril. 2016;105:1222–e12274.

Article  PubMed  Google Scholar 

McArthur SJ, Leigh D, Marshall JT, de Boer KA, Jansen RPS. Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril. 2005;84:1628–36.

Article  PubMed  Google Scholar 

Munné S. Status of preimplantation genetic testing and embryo selection. Reprod Biomed Online 2018;37(4):393–396.

Guzman L, Nuñez D, López R, Inoue N, Portella J, Vizcarra F, et al. The number of biopsied trophectoderm cells may affect pregnancy outcomes. J Assist Reprod Genet. 2019;36:145–51.

Article  PubMed  Google Scholar 

Rubio C, Navarro-Sánchez L, García-Pascual CM, Ocali O, Cimadomo D, Venier W et al. Multicenter prospective study of concordance between embryonic cell-free DNA and trophectoderm biopsies from 1301 human blastocysts. Am J Obstet Gynecol [Internet]. 2020 [cited 2023 Jun 24];223:751.e1-751.e13. https://linkinghub.elsevier.com/retrieve/pii/S0002937820305202

Bellver J, Bosch E, Espinós JJ, Fabregues F, Fontes J, García-Velasco J, et al. Second-generation preimplantation genetic testing for aneuploidy in assisted reproduction: a SWOT analysis. Reprod Biomed Online. 2019;39:905–15.

Article  CAS  PubMed  Google Scholar 

Popovic M, Borot L, Lorenzon AR, Lopes ALR, de Sakkas C, Lledó D. Implicit bias in diagnosing mosaicism amongst preimplantation genetic testing providers: results from a multicenter study of 36 395 blastocysts. Hum Reprod. 2024;39:258–74.

Article  PubMed  Google Scholar 

Orvieto R, Shimon C, Rienstein S, Jonish-Grossman A, Shani H, Aizer A. Do human embryos have the ability of self-correction? Reprod Biol Endocrinol RBE. 2020;18:98.

Article  CAS  Google Scholar 

Gleicher N, Metzger J, Croft G, Kushnir VA, Albertini DF, Barad DH. A single trophectoderm biopsy at blastocyst stage is mathematically unable to determine embryo ploidy accurately enough for clinical use. Reprod Biol Endocrinol RBE. 2017;15:33.

Article  Google Scholar 

Franco J, Carrillo de Albornoz E, Villa Milla A, Bescos Villa G, Sotos Borras F, Orozco I, Gómez et al. Non-invasive embryo selection strategy for clinical IVF. New prioritization tool in embryo transfer. RBMO Vol 45 ISSUE Suppl 1..2022. 2022.

García-Pascual CM, Navarro-Sánchez L, Ichikawa-Ceschin I, Bakalova D, Martínez-Merino L, Simón C, et al. Cell-free deoxyribonucleic acid analysis in preimplantation genetic testing. FS Sci. 2023;4:7–16.

Google Scholar 

Chen L. Sun Q, Xu J, et al. A non-invasive chromosome screening strategy for prioritizing in vitro fertilization embryos for implantation. Front Cell Dev Biol. 2021;9:708322.

Stigliani S, Anserini P, Venturini PL, Scaruffi P. Mitochondrial DNA content in embryo culture medium is significantly associated with human embryo fragmentation. Hum Reprod [Internet]. 2013 [cited 2024 Jan 20];28:2652–60. https://doi.org/10.1093/humrep/det314

Yang L, Lv Q, Chen W, Sun J, Wu Y, Wang Y, et al. Presence of embryonic DNA in culture medium. Oncotarget. 2017;8:67805.

Article  PubMed  PubMed Central  Google Scholar 

Zhang Y, Li N, Wang L, Sun H, Ma M, Wang H et al. Molecular analysis of DNA in blastocoele fluid using next-generation sequencing. J Assist Reprod Genet [Internet]. 2016 [cited 2024 Jan 20];33:637–45. https://doi.org/10.1007/s10815-016-0667-7

Huang L, Bogale B, Tang Y, Lu S, Xie XS, Racowsky C. Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy. Proc Natl Acad Sci [Internet]. 2019 [cited 2023 Jun 24];116:14105–12. https://doi.org/10.1073/pnas.1907472116

Magli MC, Albanese C, Crippa A, Tabanelli C, Ferraretti AP, Gianaroli L. Deoxyribonucleic acid detection in blastocoelic fluid: a new predictor of embryo ploidy and viable pregnancy. Fertil Steril [Internet]. 2019 [cited 2023 Jun 25];111:77–85. https://www.sciencedirect.com/science/article/pii/S0015028218320752

Tšuiko O, Zhigalina DI, Jatsenko T, Skryabin NA, Kanbekova OR, Artyukhova VG et al. Karyotype of the blastocoel fluid demonstrates low concordance with both trophectoderm and inner cell mass. Fertil Steril [Internet]. 2018 [cited 2024 Jan 20];109:1127–1134.e1. https://www.sciencedirect.com/science/article/pii/S0015028218300840

Hammond ER, McGillivray BC, Wicker SM, Peek JC, Shelling AN, Stone P, et al. Characterizing nuclear and mitochondrial DNA in spent embryo culture media: genetic contamination identified. Fertil Steril. 2017;107:220–e2285.

Article  CAS  PubMed  Google Scholar 

Brouillet S, Martinez G, Coutton C, Hamamah S. Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? A systematic review. Reprod Biomed Online [Internet]. 2020 [cited 2023 Jun 24];40:779–96. https://linkinghub.elsevier.com/retrieve/pii/S1472648320300882

Viana RV, Wallis CL. Good Clinical Laboratory Practice (GCLP) for molecular based tests used in diagnostic laboratories. Wide Spectra Qual Control [Internet]. 2011 [cited 2024 Jan 20];36. https://books.google.es/books?hl=es%26lr=%26id=jIqfDwAAQBAJ2%26oi=fnd%26pg=PA2926%dq&https://doi.org/10.5772/23963%26ots=Bt7AfjMcgG%26sig=ILYIE-F38NWuT6J-0iRjp1cW6Vc

Galluzzi L, Palini S, Stefani SD, Andreoni F, Primiterra M, Diotallevi A et al. Extracellular embryo genomic DNA and its potential for genotyping applications. Future Sci OA [Internet]. 2015 [cited 2024 Jan 20];1. https://www.future-science.com/doi/full/https://doi.org/10.4155/fso.15.62

Hanson BM, Tao X, Hong KH, Comito CE, Pangasnan R, Seli E et al. Noninvasive preimplantation genetic testing for aneuploidy exhibits high rates of deoxyribonucleic acid amplification failure and poor correlation with results obtained using trophectoderm biopsy. Fertil Steril [Internet]. 2021 [cited 2023 Jun 24];115:1461–70. https://linkinghub.elsevier.com/retrieve/pii/S0015028221000509

Voet T, Kumar P, Van Loo P, Cooke SL, Marshall J, Lin M-L et al. Single-cell paired-end genome sequencing reveals structural variation per cell cycle. Nucleic Acids Res [Internet]. 2013 [cited 2024 Jan 20];41:6119–38. https://doi.org/10.1093/nar/gkt345

Zong C, Lu S, Chapman AR, Xie XS. Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell. Science [Internet]. 2012 [cited 2024 Jan 20];338:1622–6. https://www.science.org/doi/abs/https://doi.org/10.1126/science.1229164

Ho JR, Arrach N, Rhodes-Long K, Ahmady A, Ingles S, Chung K, et al. Pushing the limits of detection: investigation of cell-free DNA for aneuploidy screening in embryos. Fertil Steril. 2018;110:467–75.

Article  CAS  PubMed  Google Scholar 

Liu W, Liu J, Du H, Ling J, Sun X, Chen D. Non-invasive pre-implantation aneuploidy screening and diagnosis of beta thalassemia IVSII654 mutation using spent embryo culture medium. Ann Med [Internet]. 2017 [cited 2024 Jan 20];49:319–28. https://doi.org/10.1080/07853890.2016.1254816

Jiao J, Shi B, Sagnelli M, Yang D, Yao Y, Li W et al. Minimally invasive preimplantation genetic testing using blastocyst culture medium. Hum Reprod [Internet]. 2019 [cited 2023 Jun 24];34:1369–79. https://academic.oup.com/humrep/article/34/7/1369/5525081

Wu H, Ding C, Shen X, Wang J, Li R, Cai B et al. Medium-Based Noninvasive Preimplantation Genetic Diagnosis for Human α-Thalassemias-SEA. Medicine (Baltimore) [Internet]. 2015 [cited 2024 Jan 20];94:e669. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4554004/

Capalbo A, Romanelli V, Patassini C, Poli M, Girardi L, Giancani A, et al. Diagnostic efficacy of blastocoel fluid and spent media as sources of DNA for preimplantation genetic testing in standard clinical conditions. Fertil Steril. 2018;110:870–e8795.

Article  CAS  PubMed 

留言 (0)

沒有登入
gif