{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:50:43Z","timestamp":1791996643291,"version":"4.4.0"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2025,1,28]],"date-time":"2025-01-28T00:00:00Z","timestamp":1738022400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,1,28]],"date-time":"2025-01-28T00:00:00Z","timestamp":1738022400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Assist Reprod Genet"],"published-print":{"date-parts":[[2025,3]]},"DOI":"10.1007\/s10815-024-03358-5","type":"journal-article","created":{"date-parts":[[2025,1,27]],"date-time":"2025-01-27T20:59:07Z","timestamp":1738011547000},"page":"1015-1024","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Prenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU)"],"prefix":"10.1007","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3836-5190","authenticated-orcid":false,"given":"Francesca Romana","family":"Grati","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0109-323X","authenticated-orcid":false,"given":"Antonio","family":"Capalbo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Gabbiato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Battaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Carla","family":"Pittalis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Bizzoco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Cardarelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Gatta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5712-0754","authenticated-orcid":false,"given":"Fortunato","family":"Lonardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3554-2817","authenticated-orcid":false,"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5826-6715","authenticated-orcid":false,"given":"Daniela","family":"Zuccarello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the Italian Society of Human Genetics (SIGU)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,28]]},"reference":[{"issue":"3","key":"3358_CR1","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1097\/00001703-199906000-00013","volume":"11","author":"DK Gardner","year":"1999","unstructured":"Gardner DK, Schoolcraft WB. Culture and transfer of human blastocysts. Curr Opin Obstet Gynecol. 1999;11(3):307\u201311. https:\/\/doi.org\/10.1097\/00001703-199906000-00013.","journal-title":"Curr Opin Obstet Gynecol"},{"issue":"1","key":"3358_CR2","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1002\/rmb2.12352","volume":"20","author":"K Takeuchi","year":"2020","unstructured":"Takeuchi K. Pre-implantation genetic testing: past, present, future. Reprod Med Biol. 2020;20(1):27\u201340. https:\/\/doi.org\/10.1002\/rmb2.12352.","journal-title":"Reprod Med Biol"},{"issue":"3","key":"3358_CR3","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1016\/j.fertnstert.2013.04.039","volume":"100","author":"RT Scott Jr","year":"2013","unstructured":"Scott RT Jr, 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. 2013;100(3):624\u201330. https:\/\/doi.org\/10.1016\/j.fertnstert.2013.04.039.","journal-title":"Fertil Steril"},{"key":"3358_CR4","doi-asserted-by":"publisher","first-page":"7193075","DOI":"10.1155\/2016\/7193075","volume":"2016","author":"D Cimadomo","year":"2016","unstructured":"Cimadomo D, Capalbo A, Ubaldi FM, 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;2016:7193075. https:\/\/doi.org\/10.1155\/2016\/7193075.","journal-title":"Biomed Res Int"},{"key":"3358_CR5","doi-asserted-by":"publisher","unstructured":"Maggiulli R, Giancani A, Cimadomo D, Ubaldi FM, Rienzi L. Human blastocyst biopsy and vitrification. J Vis Exp. 2019;26;(149). https:\/\/doi.org\/10.3791\/59625","DOI":"10.3791\/59625"},{"key":"3358_CR6","doi-asserted-by":"publisher","unstructured":"ESHRE PGT Consortium and SIG-Embryology Biopsy Working Group; Kokkali G, Coticchio G, Bronet F, Celebi C, Cimadomo D, Goossens V, Liss J, Nunes S, Sfontouris I, Vermeulen N, Zakharova E, De Rycke M. ESHRE PGT Consortium and SIG Embryology good practice recommendations for polar body and embryo biopsy for PGT. Hum Reprod Open. 2020;2020(3):hoaa020. https:\/\/doi.org\/10.1093\/hropen\/hoaa020","DOI":"10.1093\/hropen\/hoaa020"},{"key":"3358_CR7","doi-asserted-by":"publisher","unstructured":"ESHRE PGT Consortium Steering Committee; Carvalho F, Coonen E, Goossens V, Kokkali G, Rubio C, Meijer-Hoogeveen M, Moutou C, Vermeulen N, De Rycke M. ESHRE PGT Consortium good practice recommendations for the organisation of PGT. Hum Reprod Open. 2020;2020(3):hoaa021. https:\/\/doi.org\/10.1093\/hropen\/hoaa021","DOI":"10.1093\/hropen\/hoaa021"},{"key":"3358_CR8","unstructured":"Raccomandazioni SIERR - SIGU di buona pratica per la predisposizione e l\u2019organizzazione di laboratori di embriologia clinica e genetica medica che eseguono test genetici preimpianto, 2024.\u00a0https:\/\/sigu.net\/wp-content\/uploads\/2023\/11\/documento-SIGU-SIERR_finale_22012024-1.pdf."},{"key":"3358_CR9","unstructured":"Diagnosi Genetica Preimpianto - PGT Raccomandazioni SIGU 2017 per la pratica clinica. https:\/\/sigu.net\/wp-content\/uploads\/2020\/11\/2043-2017_08_09_Raccomandazioni-PGT2017-ApprovatoCDSIGU.pdf."},{"key":"3358_CR10","doi-asserted-by":"publisher","unstructured":"ESHRE PGT-M Working Group; Carvalho F, Moutou C, Dimitriadou E, Dreesen J, Gim\u00e9nez C, Goossens V, Kakourou G, Vermeulen N, Zuccarello D, De Rycke M. ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders. Hum Reprod Open. 2020;2020(3):hoaa018. https:\/\/doi.org\/10.1093\/hropen\/hoaa018","DOI":"10.1093\/hropen\/hoaa018"},{"key":"3358_CR11","doi-asserted-by":"publisher","unstructured":"ESHRE PGT-SR\/PGT-A Working Group; Coonen E, Rubio C, Christopikou D, Dimitriadou E, Gontar J, Goossens V, Maurer M, Spinella F, Vermeulen N, De Rycke M. ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations. Hum Reprod Open. 2020;2020(3):hoaa017. https:\/\/doi.org\/10.1093\/hropen\/hoaa017","DOI":"10.1093\/hropen\/hoaa017"},{"issue":"8","key":"3358_CR12","doi-asserted-by":"publisher","first-page":"871","DOI":"10.3390\/genes11080871","volume":"11","author":"M De Rycke","year":"2020","unstructured":"De Rycke M, Berckmoes V. Preimplantation genetic testing for monogenic disorders. Genes (Basel). 2020;11(8):871. https:\/\/doi.org\/10.3390\/genes11080871.","journal-title":"Genes (Basel)"},{"issue":"8","key":"3358_CR13","doi-asserted-by":"publisher","first-page":"1457","DOI":"10.1007\/s10815-018-1187-4","volume":"35","author":"L Volozonoka","year":"2018","unstructured":"Volozonoka L, Perminov D, Kor\u0146ejeva L, Alk\u0161ere B, Novikova N, P\u012bmane EJ, Blumberga A, Kempa I, Miskova A, Gail\u012bte L, Fodina V. Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing. J Assist Reprod Genet. 2018;35(8):1457\u201372. https:\/\/doi.org\/10.1007\/s10815-018-1187-4.","journal-title":"J Assist Reprod Genet"},{"issue":"1","key":"3358_CR14","doi-asserted-by":"publisher","first-page":"e2293","DOI":"10.1002\/mgg3.2293","volume":"12","author":"P Huang","year":"2024","unstructured":"Huang P, Lan Y, Zhou H, Lin L, Shu J, Wang C, Zhao X, Liang L, He S, Mou J, Zhang X, Qiu Q, Wei H. Comprehensive application of multiple molecular diagnostic techniques in pre-implantation genetic testing for monogenic. Mol Genet Genomic Med. 2024;12(1):e2293. https:\/\/doi.org\/10.1002\/mgg3.2293.","journal-title":"Mol Genet Genomic Med."},{"key":"3358_CR15","doi-asserted-by":"publisher","unstructured":"Hu X, Wang W, Luo K, Dai J, Zhang Y, Wan Z, He W, Zhang S, Yang L, Tan Q, Li W, Zhang Q, Gong F, Lu G, Tan YQ, Lin G, Du J. Extended application of PGT-M strategies for small pathogenic CNVs. J Assist Reprod Genet. 2024. https:\/\/doi.org\/10.1007\/s10815-024-03028-6","DOI":"10.1007\/s10815-024-03028-6"},{"issue":"11","key":"3358_CR16","doi-asserted-by":"publisher","first-page":"2095","DOI":"10.3390\/genes14112095","volume":"14","author":"R Giuliano","year":"2023","unstructured":"Giuliano R, Maione A, Vallefuoco A, Sorrentino U, Zuccarello D. Preimplantation genetic testing for genetic diseases: limits and review of current literature. Genes (Basel). 2023;14(11):2095. https:\/\/doi.org\/10.3390\/genes14112095.","journal-title":"Genes (Basel)"},{"issue":"6","key":"3358_CR17","doi-asserted-by":"publisher","first-page":"1173","DOI":"10.1093\/humrep\/deu033","volume":"29","author":"A Capalbo","year":"2014","unstructured":"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(6):1173\u201381. https:\/\/doi.org\/10.1093\/humrep\/deu033.","journal-title":"Hum Reprod"},{"issue":"7","key":"3358_CR18","doi-asserted-by":"publisher","first-page":"1206","DOI":"10.1093\/humrep\/dez078","volume":"34","author":"D Cimadomo","year":"2019","unstructured":"Cimadomo D, Soscia D, Vaiarelli A, Maggiulli R, Capalbo A, Ubaldi FM, Rienzi L. Looking past the appearance: a comprehensive description of the clinical contribution of poor-quality blastocysts to increase live birth rates during cycles with aneuploidy testing. Hum Reprod. 2019;34(7):1206\u201314. https:\/\/doi.org\/10.1093\/humrep\/dez078.","journal-title":"Hum Reprod"},{"issue":"9","key":"3358_CR19","doi-asserted-by":"publisher","first-page":"CD005291","DOI":"10.1002\/14651858.CD005291.pub3","volume":"9","author":"S Cornelisse","year":"2020","unstructured":"Cornelisse S, Zagers M, Kostova E, Fleischer K, van Wely M, Mastenbroek S. Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation. Cochrane Database Syst Rev. 2020;9(9):CD005291. https:\/\/doi.org\/10.1002\/14651858.CD005291.pub3.","journal-title":"Cochrane Database Syst Rev"},{"issue":"1","key":"3358_CR20","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1186\/s12967-023-04641-2","volume":"21","author":"S Ma","year":"2023","unstructured":"Ma S, Liao J, Zhang S, Yang X, Hocher B, Tan J, Tan Y, Hu L, Gong F, Xie P, Lin G. Exploring the efficacy and beneficial population of preimplantation genetic testing for aneuploidy start from the oocyte retrieval cycle: a real-world study. J Transl Med. 2023;21(1):779. https:\/\/doi.org\/10.1186\/s12967-023-04641-2.","journal-title":"J Transl Med"},{"issue":"5","key":"3358_CR21","doi-asserted-by":"publisher","first-page":"1098","DOI":"10.1016\/j.fertnstert.2017.03.023","volume":"107","author":"A Capalbo","year":"2017","unstructured":"Capalbo A, Rienzi L. Mosaicism between trophectoderm and inner cell mass. Fertil Steril. 2017;107(5):1098\u2013106. https:\/\/doi.org\/10.1016\/j.fertnstert.2017.03.023.","journal-title":"Fertil Steril"},{"issue":"4","key":"3358_CR22","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1007\/s10815-021-02069-5","volume":"38","author":"CK Riestenberg","year":"2021","unstructured":"Riestenberg CK, Mok T, Ong JR, Platt LD, Han CS, Quinn MM. Sonographic abnormalities in pregnancies conceived following IVF with and without preimplantation genetic testing for aneuploidy (PGT-A). J Assist Reprod Genet. 2021;38(4):865\u201371. https:\/\/doi.org\/10.1007\/s10815-021-02069-5.","journal-title":"J Assist Reprod Genet"},{"issue":"3","key":"3358_CR23","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1093\/humupd\/dmad001","volume":"29","author":"A Alteri","year":"2023","unstructured":"Alteri A, Cermisoni GC, Pozzoni M, Gaeta G, Cavoretto PI, Vigan\u00f2 P. Obstetric, neonatal, and child health outcomes following embryo biopsy for preimplantation genetic testing. Hum Reprod Update. 2023;29(3):291\u2013306. https:\/\/doi.org\/10.1093\/humupd\/dmad001.","journal-title":"Hum Reprod Update"},{"issue":"2","key":"3358_CR24","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1016\/j.ajog.2023.08.010","volume":"230","author":"D Mao","year":"2024","unstructured":"Mao D, Xu J, Sun L. Impact of trophectoderm biopsy for preimplantation genetic testing on obstetric and neonatal outcomes: a meta-analysis. Am J Obstet Gynecol. 2024;230(2):199-212.e5. https:\/\/doi.org\/10.1016\/j.ajog.2023.08.010.","journal-title":"Am J Obstet Gynecol"},{"issue":"8","key":"3358_CR25","doi-asserted-by":"publisher","first-page":"1022","DOI":"10.1002\/pd.6189","volume":"42","author":"ME Bunnell","year":"2022","unstructured":"Bunnell ME, Dobson LJ, Lanes A, Ginsburg ES. Use of preimplantation genetic testing for monogenic disorders and subsequent prenatal care and diagnostic testing. Prenat Diagn. 2022;42(8):1022\u201330. https:\/\/doi.org\/10.1002\/pd.6189.","journal-title":"Prenat Diagn"},{"key":"3358_CR26","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1186\/s13148-015-0143-8","volume":"7","author":"T Eggermann","year":"2015","unstructured":"Eggermann T, Perez de Nanclares G, Maher ER, Temple IK, T\u00fcmer Z, Monk D, Mackay DJ, Gr\u00f8nskov K, Riccio A, Linglart A, Netchine I. Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. Clin Epigenetics. 2015;7:123. https:\/\/doi.org\/10.1186\/s13148-015-0143-8.","journal-title":"Clin Epigenetics"},{"issue":"12","key":"3358_CR27","doi-asserted-by":"publisher","first-page":"2547","DOI":"10.1007\/s10815-019-01593-9","volume":"36","author":"E Mateu-Brull","year":"2019","unstructured":"Mateu-Brull E, Rodrigo L, Peinado V, Mercader A, Campos-Galindo I, Bronet F, Garc\u00eda-Herrero S, Florensa M, Mil\u00e1n M, Rubio C. Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR). J Assist Reprod Genet. 2019;36(12):2547\u201355. https:\/\/doi.org\/10.1007\/s10815-019-01593-9.","journal-title":"J Assist Reprod Genet"},{"issue":"9","key":"3358_CR28","doi-asserted-by":"publisher","first-page":"e2017","DOI":"10.1002\/mgg3.2017","volume":"10","author":"J Fan","year":"2022","unstructured":"Fan J, Zhang X, Chen Y, Zhang J, Zhang L, Bi X, Wang J, Huang X, Yan M, Wu X. Exploration of the interchromosomal effects in preimplantation genetic testing for structural rearrangements based on next-generation sequencing. Mol Genet Genomic Med. 2022;10(9):e2017. https:\/\/doi.org\/10.1002\/mgg3.2017.","journal-title":"Mol Genet Genomic Med."},{"issue":"4","key":"3358_CR29","doi-asserted-by":"publisher","first-page":"100232","DOI":"10.1016\/j.ajogmf.2020.100232","volume":"2","author":"AM Klimczak","year":"2020","unstructured":"Klimczak AM, Reig A, Neal SA, Seli E, Scott RT Jr. Interpretation of noninvasive prenatal testing results following in vitro fertilization and preimplantation genetic testing for aneuploidy. Am J Obstet Gynecol MFM. 2020;2(4):100232. https:\/\/doi.org\/10.1016\/j.ajogmf.2020.100232.","journal-title":"Am J Obstet Gynecol MFM"},{"issue":"1","key":"3358_CR30","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/j.ajog.2004.03.090","volume":"191","author":"KH Nicolaides","year":"2004","unstructured":"Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 2004;191(1):45\u201367. https:\/\/doi.org\/10.1016\/j.ajog.2004.03.090.","journal-title":"Am J Obstet Gynecol"},{"issue":"8","key":"3358_CR31","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1038\/gim.2014.3","volume":"16","author":"FR Grati","year":"2014","unstructured":"Grati FR, Malvestiti F, Ferreira JC, Bajaj K, Gaetani E, Agrati C, Grimi B, Dulcetti F, Ruggeri AM, De Toffol S, Maggi F, Wapner R, Gross S, Simoni G. Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results. Genet Med. 2014;16(8):620\u20134. https:\/\/doi.org\/10.1038\/gim.2014.3.","journal-title":"Genet Med"},{"issue":"4","key":"3358_CR32","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1002\/uog.17533","volume":"51","author":"MI Srebniak","year":"2018","unstructured":"Srebniak MI, Joosten M, Knapen MFCM, Arends LR, Polak M, van Veen S, Go ATJI, Van Opstal D. Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2018;51(4):445\u201352. https:\/\/doi.org\/10.1002\/uog.17533.","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"23","key":"3358_CR33","doi-asserted-by":"publisher","first-page":"2175","DOI":"10.1056\/NEJMoa1203382","volume":"367","author":"RJ Wapner","year":"2012","unstructured":"Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367(23):2175\u201384. https:\/\/doi.org\/10.1056\/NEJMoa1203382.","journal-title":"N Engl J Med"},{"issue":"4","key":"3358_CR34","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1186\/s40064-015-0788-y","volume":"14","author":"E Greco","year":"2015","unstructured":"Greco E, Biricik A, Cotarelo RP, Iammarone E, Rubino P, Tesarik J, Fiorentino F, Minasi MG. Successful implantation and live birth of a healthy boy after triple biopsy and double vitrification of oocyte-embryo-blastocyst. Springerplus. 2015;14(4):22. https:\/\/doi.org\/10.1186\/s40064-015-0788-y.","journal-title":"Springerplus"},{"issue":"1","key":"3358_CR35","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1016\/j.fertnstert.2017.05.002","volume":"108","author":"S Munn\u00e9","year":"2017","unstructured":"Munn\u00e9 S, Blazek J, Large M, Martinez-Ortiz PA, Nisson H, Liu E, Tarozzi N, Borini A, Becker A, Zhang J, Maxwell S, Grifo J, Babariya D, Wells D, Fragouli E. Detailed investigation into the cytogenetic constitution and pregnancy outcome of replacing mosaic blastocysts detected with the use of high-resolution next-generation sequencing. Fertil Steril. 2017;108(1):62-71.e8. https:\/\/doi.org\/10.1016\/j.fertnstert.2017.05.002.","journal-title":"Fertil Steril"},{"issue":"7","key":"3358_CR36","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1007\/s00439-017-1797-4","volume":"136","author":"E Fragouli","year":"2017","unstructured":"Fragouli E, Alfarawati S, Spath K, Babariya D, Tarozzi N, Borini A, Wells D. Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid-aneuploid blastocysts. Hum Genet. 2017;136(7):805\u201319. https:\/\/doi.org\/10.1007\/s00439-017-1797-4.","journal-title":"Hum Genet"},{"issue":"12","key":"3358_CR37","doi-asserted-by":"publisher","first-page":"2238","DOI":"10.1016\/j.ajhg.2021.11.002","volume":"108","author":"A Capalbo","year":"2021","unstructured":"Capalbo A, Poli M, Rienzi L, Girardi L, Patassini C, Fabiani M, Cimadomo D, Benini F, Farcomeni A, Cuzzi J, Rubio C, Albani E, Sacchi L, Vaiarelli A, Figliuzzi M, Findikli N, Coban O, Boynukalin FK, Vogel I, Hoffmann E, Livi C, Levi-Setti PE, Ubaldi FM, Sim\u00f3n C. Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial. Am J Hum Genet. 2021;108(12):2238\u201347. https:\/\/doi.org\/10.1016\/j.ajhg.2021.11.002.","journal-title":"Am J Hum Genet."},{"issue":"7","key":"3358_CR38","doi-asserted-by":"publisher","first-page":"1369","DOI":"10.3390\/jcm10071369","volume":"10","author":"S Abhari","year":"2021","unstructured":"Abhari S, Kawwass JF. Pregnancy and neonatal outcomes after transfer of mosaic embryos: a review. J Clin Med. 2021;10(7):1369. https:\/\/doi.org\/10.3390\/jcm10071369.","journal-title":"J Clin Med"},{"issue":"9","key":"3358_CR39","doi-asserted-by":"publisher","first-page":"1572","DOI":"10.1016\/j.ajhg.2022.07.009","volume":"109","author":"A Capalbo","year":"2022","unstructured":"Capalbo A, Poli M, Jalas C, Forman EJ, Treff NR. On the reproductive capabilities of aneuploid human preimplantation embryos. Am J Hum Genet. 2022;109(9):1572\u201381. https:\/\/doi.org\/10.1016\/j.ajhg.2022.07.009.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"3358_CR40","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.fertnstert.2017.09.025","volume":"109","author":"F Spinella","year":"2018","unstructured":"Spinella F, Fiorentino F, Biricik A, Bono S, Ruberti A, Cotroneo E, Baldi M, Cursio E, Minasi MG, Greco E. Extent of chromosomal mosaicism influences the clinical outcome of in vitro fertilization treatments. Fertil Steril. 2018;109(1):77\u201383. https:\/\/doi.org\/10.1016\/j.fertnstert.2017.09.025.","journal-title":"Fertil Steril"},{"issue":"5","key":"3358_CR41","doi-asserted-by":"publisher","first-page":"957","DOI":"10.1016\/j.fertnstert.2023.07.022","volume":"120","author":"M Viotti","year":"2023","unstructured":"Viotti M, Greco E, Grifo JA, Madjunkov M, Librach C, Cetinkaya M, Kahraman S, Yakovlev P, Kornilov N, Corti L, Biricik A, Cheng EH, Su CY, Lee MS, Bonifacio MD, Cooper AR, Griffin DK, Tran DY, Kaur P, Barnes FL, Zouves CG, Victor AR, Besser AG, Madjunkova S, Spinella F. Chromosomal, gestational, and neonatal outcomes of embryos classified as a mosaic by preimplantation genetic testing for aneuploidy. Fertil Steril. 2023;120(5):957\u201366. https:\/\/doi.org\/10.1016\/j.fertnstert.2023.07.022.","journal-title":"Fertil Steril"},{"key":"3358_CR42","doi-asserted-by":"publisher","unstructured":"ESHRE Working Group on Chromosomal Mosaicism; De Rycke M, Capalbo A, Coonen E, Coticchio G, Fiorentino F, Goossens V, Mcheik S, Rubio C, Sermon K, Sfontouris I, Spits C, Vermeesch JR, Vermeulen N, Wells D, Zambelli F, Kakourou G. ESHRE survey results and good practice recommendations on managing chromosomal mosaicism. Hum Reprod Open. 2022;2022(4):hoac044. https:\/\/doi.org\/10.1093\/hropen\/hoac044","DOI":"10.1093\/hropen\/hoac044"},{"issue":"5","key":"3358_CR43","doi-asserted-by":"publisher","first-page":"1212","DOI":"10.1016\/j.fertnstert.2020.11.041","volume":"115","author":"M Viotti","year":"2021","unstructured":"Viotti M, Victor AR, Barnes FL, Zouves CG, Besser AG, Grifo JA, Cheng EH, Lee MS, Horcajadas JA, Corti L, Fiorentino F, Spinella F, Minasi MG, Greco E, Munn\u00e9 S. Using outcome data from one thousand mosaic embryo transfers to formulate an embryo ranking system for clinical use. Fertil Steril. 2021;115(5):1212\u201324. https:\/\/doi.org\/10.1016\/j.fertnstert.2020.11.041.","journal-title":"Fertil Steril"},{"issue":"4","key":"3358_CR44","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1016\/j.rbmo.2018.01.005","volume":"36","author":"FR Grati","year":"2018","unstructured":"Grati FR, Gallazzi G, Branca L, Maggi F, Simoni G, Yaron Y. An evidence-based scoring system for prioritizing mosaic aneuploid embryos following preimplantation genetic screening. Reprod Biomed Online. 2018;36(4):442\u20139. https:\/\/doi.org\/10.1016\/j.rbmo.2018.01.005.","journal-title":"Reprod Biomed Online"},{"issue":"4","key":"3358_CR45","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1016\/j.ajhg.2020.03.005","volume":"106","author":"L Girardi","year":"2020","unstructured":"Girardi L, Serdarogullari M, Patassini C, Poli M, Fabiani M, Caroselli S, Coban O, Findikli N, Boynukalin FK, Bahceci M, Chopra R, Canipari R, Cimadomo D, Rienzi L, Ubaldi F, Hoffmann E, Rubio C, Simon C, Capalbo A. Incidence, origin, and predictive model for the detection and clinical management of segmental aneuploidies in human embryos. Am J Hum Genet. 2020;106(4):525\u201334. https:\/\/doi.org\/10.1016\/j.ajhg.2020.03.005.","journal-title":"Am J Hum Genet."},{"issue":"2","key":"3358_CR46","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/j.xfss.2023.03.004","volume":"4","author":"L Picchetta","year":"2023","unstructured":"Picchetta L, Ottolini CS, Neill HC, Capalbo A. Investigating the significance of segmental aneuploidy findings in preimplantation embryos. F S Sci. 2023;4(2):17\u201326. https:\/\/doi.org\/10.1016\/j.xfss.2023.03.004.","journal-title":"F S Sci"},{"key":"3358_CR47","unstructured":"Documento di Buona Pratica per la Diagnosi Citogenetica e Citogenomica Costituzionale. https:\/\/sigu.net\/wp-content\/uploads\/2023\/09\/BuonaPraticaCitogeneticaCitogenomica_v2022_REV.pdf."}],"container-title":["Journal of Assisted Reproduction and Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10815-024-03358-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10815-024-03358-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10815-024-03358-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,30]],"date-time":"2025-03-30T03:32:42Z","timestamp":1743305562000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10815-024-03358-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,28]]},"references-count":47,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["3358"],"URL":"https:\/\/doi.org\/10.1007\/s10815-024-03358-5","relation":{},"ISSN":["1058-0468","1573-7330"],"issn-type":[{"value":"1058-0468","type":"print"},{"value":"1573-7330","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,28]]},"assertion":[{"value":"16 September 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 December 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 January 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"F.R.G. is currently a full-time employee of Menarini Silicon Biosystems (Castel Maggiore, Bologna, Italy); at the time of document conceptualization, she was an employee of TOMA Advanced Biomedical Assays S.p.A. (ImpactLab) and the coordinator of the SIGU working group of cytogenetics and cytogenomics. L.C. is employee of RDI \u2013 Italian Diagnostic Network, Cerba Healthcare Italy Group. The other authors have no conflict of interest to report related with this manuscript.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}