The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation
Open accessAbstract
Background: The majority of human embryos created using in vitro fertilisation (IVF) techniques are aneuploid. Comprehensive chromosome screening methods, applicable to single cells biopsied from preimplantation embryos, allow reliable identification and transfer of euploid embryos. Recently, randomised trials using such methods have indicated that aneuploidy screening improves IVF success rates. However, the high cost of testing has restricted the availability of this potentially beneficial strategy. This study aimed to harness next-generation sequencing (NGS) technology, with the intention of lowering the costs of preimplantation aneuploidy screening. Methods: Embryo biopsy, whole genome amplification and semiconductor sequencing. Results: A rapid (<15 h) NGS protocol was developed, with consumable cost only two-thirds that of the most widely used method for embryo aneuploidy detection. Validation involved blinded analysis of 54 cells from cell lines or biopsies from human embryos. Sensitivity and specificity were 100%. The method was applied clinically, assisting in the selection of euploid embryos in two IVF cycles, producing healthy children in both cases. The NGS approach was also able to reveal specified mutations in the nuclear or mitochondrial genomes in parallel with chromosome assessment. Interestingly, elevated mitochondrial DNA content was associated with aneuploidy (p<0.05), a finding suggestive of a link between mitochondria and chromosomal malsegregation. Conclusions: This study demonstrates that NGS provides highly accurate, low-cost diagnosis of aneuploidy in cells from human preimplantation embryos and is rapid enough to allow testing without embryo cryopreservation. The method described also has the potential to shed light on other aspects of embryo genetics of relevance to health and viability.
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Cites
Tumour evolution inferred by single-cell sequencing
Navin, N., Kendall, J., Troge, J., Andrews, P., Rodgers, L., McIndoo, J., Cook, K., Stepansky, A., Levy, D., Esposito, D., et al. (2011) · Nature · doi:10.1038/nature09807 · Cited by 2,598
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Yang, Z., Liu, J., Collins, G. S., Salem, S. A., Liu, X., Lyle, S. S., Peck, A. C., Sills, E. S., & Salem, R. D. (2012) · Molecular Cytogenetics · doi:10.1186/1755-8166-5-24 · Cited by 545
In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial
Forman, E. J., Hong, K. H., Ferry, K. M., Tao, X., Taylor, D., Levy, B., Treff, N. R., & Scott, R. T. (2013) · Fertility and Sterility · doi:10.1016/j.fertnstert.2013.02.056 · Cited by 497
The Role of Mitochondrial DNA Copy Number in Mammalian Fertility1
Wai, T., Ao, A., Zhang, X., Cyr, D., Dufort, D., & Shoubridge, E. A. (2010) · Biology of Reproduction · doi:10.1095/biolreprod.109.080887 · Cited by 443
Quiet please, do not disturb: a hypothesis of embryo metabolism and viability
Leese, H. J. (2002) · BioEssays · doi:10.1002/bies.10137 · Cited by 403
Scott, R. T., Ferry, K., Su, J., Tao, X., Scott, K., & Treff, N. R. (2012) · Fertility and Sterility · doi:10.1016/j.fertnstert.2012.01.104 · Cited by 360
Clinical application of comprehensive chromosomal screening at the blastocyst stage
Schoolcraft, W. B., Fragouli, E., Stevens, J., Munne, S., Katz-Jaffe, M. G., & Wells, D. (2010) · Fertility and Sterility · doi:10.1016/j.fertnstert.2009.10.015 · Cited by 336
Self-citationMitochondria directly influence fertilisation outcome in the pig
El Shourbagy, S. H., Spikings, E. C., Freitas, M., & St John, J. C. (2006) · Reproduction · doi:10.1530/rep.1.00551 · Cited by 320
Gutiérrez-Mateo, C., Colls, P., Sánchez-García, J., Escudero, T., Prates, R., Ketterson, K., Wells, D., & Munné, S. (2011) · Fertility and Sterility · doi:10.1016/j.fertnstert.2010.09.010 · Cited by 310
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Cited by
Genome editing reveals a role for OCT4 in human embryogenesis
Fogarty, N. M. E., McCarthy, A., Snijders, K. E., Powell, B. E., Kubikova, N., Blakeley, P., Lea, R., Elder, K., Wamaitha, S. E., Kim, D., et al. (2017) · Nature · doi:10.1038/nature24033 · Cited by 392
Self-citationMazzonetto, P. C., Villela, D., da Costa, S. S., Krepischi, A. C. V., Milanezi, F., Migliavacca, M. P., Pierry, P. M., Bonaldi, A., Almeida, L. G. D., De Souza, C. A., et al. (2024) · Annals of Human Genetics · doi:10.1111/ahg.12532 · Cited by 17
Kubikova, N., Babariya, D., Sarasa, J., Spath, K., Alfarawati, S., & Wells, D. (2018) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2018.05.005 · Cited by 16
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Metadata
- Authors
- Wells, D., Kaur, K., Grifo, J., Glassner, M., Taylor, J. C., Fragouli, E., & Munne, S.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2014-07-16
- Volume
- 51
- Issue
- 8
- Pages
- 553-562
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2104658942
- Cited by
- 256
- References
- 31
- FWCI
- 24.97
- Type
- journal article
- Language
- en
- Open access
- hybrid
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