Lee I, Alur-Gupta S, Gallop R, Dokras A. Utilization of preimplantation genetic testing for monogenic disorders. Fertil Steril. 2020;114(4):854–60.

Article  PubMed  Google Scholar 

van Montfoort A, Carvalho F, Coonen E, Kokkali G, Moutou C, et al. ESHRE PGT Consortium data collection XIX–XX: PGT analyses from 2016 to 2017†. Hum Reprod Open. 2021;3:hoab024.

Article  Google Scholar 

Forman EJ, Ferry KM, Gueye N-A, Smith RD, Stevens J, Scott RT. Trophectoderm biopsy for single-gene disorder preimplantation genetic diagnosis (PGD) is significantly more reliable than day 3 blastomere biopsy. Fertil Steril. 2011;96(3):S222.

Article  Google Scholar 

Fiorentino F, Biricik A, Nuccitelli A, De Palma R, Kahraman S, et al. Rapid protocol for pre-conception genetic diagnosis of single gene mutations by first polar body analysis: a possible solution for the Italian patients. Prenat Diagn. 2008;28(1):62–4.

Article  CAS  PubMed  Google Scholar 

Tuffs A. Germany allows restricted access to preimplantation genetic testing. BMJ. 2011;343:d4425.

Article  PubMed  Google Scholar 

Gutiérrez-Mateo C, Sánchez-García JF, Fischer J, Tormasi S, Cohen J, et al. Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States. Fertil Steril. 2009;92(5):1544–56.

Article  PubMed  Google Scholar 

Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara N, 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(10):651–8.

Article  PubMed  Google Scholar 

Natesan SA, Bladon AJ, Coskun S, Qubbaj W, Prates R, et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet Med. 2014;16(11):838–45.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Renwick P, Gonzalez J, Hewitson H. Evaluation and implementation of onepgt for monogenic conditions. Reprod Biomed Online. 2019;39:e26-27.

Article  Google Scholar 

De Witte L, Raman L, Baetens M, De Koker A, Callewaert N, et al. GENType: all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction. Hum Reprod. 2022;37(7):1678–91.

Article  PubMed  Google Scholar 

Masset H, Ding J, Dimitriadou E, Ardeshirdavani A, Debrock S, et al. Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing. Nucleic Acids Res. 2022;50(11):e63.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Xie P, Hu X, Kong L, Mao Y, Cheng D, et al. A novel multifunctional haplotyping-based preimplantation genetic testing for different genetic conditions. Hum Reprod. 2022;37(11):2546–59.

Article  CAS  PubMed  Google Scholar 

Hassold T, Hunt P. To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet. 2001;2(4):280–91.

Article  CAS  PubMed  Google Scholar 

Schoolcraft WB, Treff NR, Stevens JM, Ferry K, Katz-Jaffe M, Scott RT. Live birth outcome with trophectoderm biopsy, blastocyst vitrification, and single-nucleotide polymorphism microarray–based comprehensive chromosome screening in infertile patients. Fertil Steril. 2011;96(3):638–40.

Article  PubMed  Google Scholar 

Li H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. arXiv, 2013; https://doi.org/10.48550/arXiv.1303.3997.

Lai Z, Markovets A, Ahdesmaki M, Chapman B, Hofmann O, et al. VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research. Nucleic Acids Res. 2016;44(11):e108.

Article  PubMed  PubMed Central  Google Scholar 

ESHRE PGT-M Working Group, Carvalho F, Moutou C, Dimitriadou E, Dreesen J, et al. ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders†. Hum Reprod Open. 2020;2020(3):hoaa018.

Article  PubMed Central  Google Scholar 

Coonen E, van Montfoort A, Carvalho F, Kokkali G, Moutou C, et al. ESHRE PGT Consortium data collection XVI–XVIII: cycles from 2013 to 2015†. Hum Reprod Open. 2020;2020(4):hoaa043.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lazarin GA, Haque IS. Expanded carrier screening: a review of early implementation and literature. Semin Perinatol. 2016;40(1):29–34.

Article  PubMed  Google Scholar 

Capalbo A, Valero RA, Jimenez-Almazan J, Pardo PM, Fabiani M, et al. Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: translational research genomic data from 14,125 exomes. PLoS Genet. 2019;15(10):e1008409.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Biezuner T, Raz O, Amir S, Milo L, Adar R, et al. Comparison of seven single cell whole genome amplification commercial kits using targeted sequencing. Sci Rep. 2021;11(1):17171.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Huang L, Ma F, Chapman A, Lu S, Xie XS. Single-cell whole-genome amplification and sequencing: methodology and applications. Annu Rev Genomics Hum Genet. 2016;16(1):79–102.

Article  Google Scholar 

de Bourcy CFA, De Vlaminck I, Kanbar JN, Wang J, Gawad C, Quake SR. A quantitative comparison of single-cell whole genome amplification methods. PLoS ONE. 2014;9(8):e105585.

Article  PubMed  PubMed Central  Google Scholar 

Chen CK, Yu HT, Soong YK, Lee CL. New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening. Taiwan J Obstet Gynecol. 2014;53(2):146–50.

Article  PubMed  Google Scholar 

Volozonoka L, Perminov D, Korņejeva L, Alkšere B, Novikova N, et al. Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing. J Assist Reprod Genet. 2018;35(8):1457–72.

Article  PubMed  PubMed Central  Google Scholar 

Unsal E, Aktuna S, Aydin M, Ozer L, Baltacı V. Improved IVF success of combined PGT-M and PGT-A applications. Reprod Biomed Online. 2019;39:e69-70.

Article  Google Scholar 

Magli MC, Gianaroli L, Ferraretti AP, Lappi M, Ruberti A, Farfalli V. Embryo morphology and development are dependent on the chromosomal complement. Fertil Steril. 2007;87(3):534–41.

Article  PubMed  Google Scholar 

Chen S, Yin X, Zhang S, Xia J, Liu P, et al. Comprehensive preimplantation genetic testing by massively parallel sequencing. Hum Reprod. 2021;36(1):236–47.

CAS  PubMed  Google Scholar 

Kemper JM, Vollenhoven BJ, Talmor AJ. Preimplantation genetic testing for aneuploidy: a review. Obstet Gynecol Surv. 2019;74(12):727–37.

Article  PubMed  Google Scholar 

Franasiak JM, Forman EJ, Hong KH, Werner MD, Upham KM, et al. Aneuploidy across individual chromosomes at the embryonic level in trophectoderm biopsies: changes with patient age and chromosome structure. J Assist Reprod Genet. 2014;31(11):1501–9.

Article  PubMed  PubMed Central  Google Scholar 

Schaeffer E, Porchia L, López-Luna A, Hernández-Melchor D, López-Bayghen E. Aneuploidy rates inversely correlate with implantation during in vitro fertilization procedures: In Favor of PGT. Mod Med Genet Genomics. 2018; IntechOpen: London, UK, 2018; pp. 1–19

Jia CW, Wang L, Lan YL, Song R, Zhou LY, et al. Aneuploidy in early miscarriage and its related factors. Chin Med J (Engl). 2015;128(20):2772–6.

Article  PubMed  Google Scholar 

Yang Z, Liu J, Collins GS, Salem SA, Liu X, 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(1):24.

Article  PubMed  PubMed Central  Google Scholar 

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(4):870–5.

Article  PubMed  Google Scholar 

Harton GL, Munné S, Surrey M, Grifo J, Kaplan B, et al. Diminished effect of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization. Fertil Steril. 2013;100(6):1695–703.

Article  CAS  PubMed  Google Scholar 

Haddad G, Deng M, Wang CT, Witz C, Williams D, et al. Assessment of aneuploidy formation in human blastocysts resulting from donated eggs and the necessity of the embryos for aneuploidy screening. J Assist Reprod Genet. 2015;32(6):999–1006.

Article  PubMed  PubMed Central  Google Scholar 

Sills ES, Li X, Frederick JL, Khoury CD, Potter DA. Determining parental origin of embryo aneuploidy: analysis of genetic error observed in 305 embryos derived from anonymous donor oocyte IVF cycles. Mol Cytogenet. 2014;7:68.

Article  PubMed  PubMed Central  Google Scholar 

Popovic M, Dhaenens L, Boel A, Menten B, Heindryckx B. Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma. Hum Reprod Update. 2020;26(3):313–34.

Article  CAS  PubMed  Google Scholar 

Viotti M, Victor AR, Barnes FL, Zouves CG, Besser AG, et al. Using outcome data from one thousand mosaic embryo transfers to formulate an embryo ranking system for clinical use. Fertil Steril. 2021;115(5):1212–24.

Article  CAS  PubMed  Google Scholar