Gardner DK, Schoolcraft WB. Culture and transfer of human blastocysts. Curr Opin Obstet Gynecol. 1999;11(3):307–11. https://doi.org/10.1097/00001703-199906000-00013.

Article  PubMed  Google Scholar 

Takeuchi K. Pre-implantation genetic testing: past, present, future. Reprod Med Biol. 2020;20(1):27–40. https://doi.org/10.1002/rmb2.12352.

Article  PubMed  PubMed Central  Google Scholar 

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):624–30. https://doi.org/10.1016/j.fertnstert.2013.04.039.

Article  PubMed  Google Scholar 

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.

Article  PubMed  PubMed Central  Google Scholar 

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

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

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

Raccomandazioni SIERR - SIGU di buona pratica per la predisposizione e l’organizzazione di laboratori di embriologia clinica e genetica medica che eseguono test genetici preimpianto, 2024. https://sigu.net/wp-content/uploads/2023/11/documento-SIGU-SIERR_finale_22012024-1.pdf.

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.

ESHRE PGT-M Working Group; Carvalho F, Moutou C, Dimitriadou E, Dreesen J, Giménez 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

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

De Rycke M, Berckmoes V. Preimplantation genetic testing for monogenic disorders. Genes (Basel). 2020;11(8):871. https://doi.org/10.3390/genes11080871.

Article  PubMed  PubMed Central  Google Scholar 

Volozonoka L, Perminov D, Korņejeva L, Alkšere B, Novikova N, Pīmane EJ, Blumberga A, Kempa I, Miskova A, Gailīte 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):1457–72. https://doi.org/10.1007/s10815-018-1187-4.

Article  PubMed  PubMed Central  Google Scholar 

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.

Article  PubMed  Google Scholar 

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

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.

Article  PubMed  Google Scholar 

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):1173–81. https://doi.org/10.1093/humrep/deu033.

Article  PubMed  Google Scholar 

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):1206–14. https://doi.org/10.1093/humrep/dez078.

Article  PubMed  Google Scholar 

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.

Article  PubMed  Google Scholar 

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.

Article  PubMed  PubMed Central  Google Scholar 

Capalbo A, Rienzi L. Mosaicism between trophectoderm and inner cell mass. Fertil Steril. 2017;107(5):1098–106. https://doi.org/10.1016/j.fertnstert.2017.03.023.

Article  PubMed  Google Scholar 

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):865–71. https://doi.org/10.1007/s10815-021-02069-5.

Article  PubMed  PubMed Central  Google Scholar 

Alteri A, Cermisoni GC, Pozzoni M, Gaeta G, Cavoretto PI, Viganò P. Obstetric, neonatal, and child health outcomes following embryo biopsy for preimplantation genetic testing. Hum Reprod Update. 2023;29(3):291–306. https://doi.org/10.1093/humupd/dmad001.

Article  PubMed  PubMed Central  Google Scholar 

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.

Article  PubMed  Google Scholar 

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):1022–30. https://doi.org/10.1002/pd.6189.

Article  PubMed  Google Scholar 

Eggermann T, Perez de Nanclares G, Maher ER, Temple IK, Tümer Z, Monk D, Mackay DJ, Grønskov 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.

Article  PubMed  PubMed Central  Google Scholar 

Mateu-Brull E, Rodrigo L, Peinado V, Mercader A, Campos-Galindo I, Bronet F, García-Herrero S, Florensa M, Milán 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):2547–55. https://doi.org/10.1007/s10815-019-01593-9.

Article  PubMed  PubMed Central  Google Scholar 

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.

Article  PubMed  PubMed Central  Google Scholar 

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.

Article  PubMed  Google Scholar 

Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 2004;191(1):45–67. https://doi.org/10.1016/j.ajog.2004.03.090.

Article  PubMed  Google Scholar 

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):620–4. https://doi.org/10.1038/gim.2014.3.

Article  PubMed  Google Scholar 

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):445–52. https://doi.org/10.1002/uog.17533.

Article  PubMed  Google Scholar 

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):2175–84. https://doi.org/10.1056/NEJMoa1203382.

Article  PubMed  PubMed Central  Google Scholar 

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.