ArticleMolecular cytogenetics2015
Application of next-generation sequencing for 24-chromosome aneuploidy screening of human preimplantation embryos.
Article in Molecular cytogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The Pregnancy Outcome of Mosaic Embryo Transfer: A Prospective Multicenter Study and Meta-Analysis.Genes · 2020Pooled it
- Preimplantation genetic testing for aneuploidy: what technology should you use and what are the differences?Journal of assisted reproduction and genetics · 2016Pooled it
- Embryoscopy and targeted embryo biopsy for the management of early abortion.Journal of assisted reproduction and genetics · 2025Article
- Scalable noninvasive amplicon-based precision sequencing (SNAPseq) for genetic diagnosis and screening of β-thalassemia and sickle cell disease using a next-generation sequencing platform.Frontiers in molecular biosciences · 2023Article
- Estradiol to progesterone ratio is not a predictor of oocyte maturity at time of ovulation trigger.Journal of assisted reproduction and genetics · 2022Article
- Next-Generation Sequencing (NGS)-Based Preimplantation Genetic Testing for Aneuploidy (PGT-A) of Trophectoderm Biopsy for Recurrent Implantation Failure (RIF) Patients: a Retrospective Study.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- Genome diversity and instability in human germ cells and preimplantation embryos.Seminars in cell & developmental biology · 2021Article
- ChromInst: A single cell sequencing technique to accomplish pre-implantation comprehensive chromosomal screening overnight.PloS one · 2021Article
- Novel insights into the mixed germ cell-sex cord stromal tumor of the testis: detection of chromosomal aneuploidy and further morphological evidence supporting the neoplastic nature of the germ cell component.Virchows Archiv : an international journal of pathology · 2020Article
- Healthy live births from transfer of low-mosaicism embryos after preimplantation genetic testing for aneuploidy.Journal of assisted reproduction and genetics · 2020Article
- Complex preimplantation genetic tests for Robertsonian translocation, HLA, and X-linked hyper IgM syndrome caused by a novel mutation of CD40LG gene.Journal of assisted reproduction and genetics · 2020Article
- Review
- The mechanisms and clinical application of mosaicism in preimplantation embryos.Journal of assisted reproduction and genetics · 2020Review
- The outcome of human mosaic aneuploid blastocysts after intrauterine transfer: A retrospective study.Medicine · 2020Observational
- Does ICSI for in vitro fertilization cause more aneuploid embryos?Molecular cytogenetics · 2020Article
- Segmental aneuploidy in human blastocysts: a qualitative and quantitative overview.Reproductive biology and endocrinology : RB&E · 2019Article
- Current status of spent embryo media research for preimplantation genetic testing.Journal of assisted reproduction and genetics · 2019Review
- Preimplantation genetic diagnosis and screening (PGD/S) using a semiconductor sequencing platform.Human genomics · 2019Article
- Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.PloS one · 2019Article
- Rapid preimplantation genetic screening using a handheld, nanopore-based DNA sequencer.Fertility and sterility · 2018Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAneuploidy is a leading cause of repeat implantation failure and recurrent miscarriages. Preimplantation genetic screening (PGS) enables the assessment of the numeral and structural chromosomal errors of embryos before transfer in patients undergoing in vitro fertilization. Array comparative genomic hybridization (aCGH) has been demonstrated to be an accurate PGS method and in present thought to be the gold standard, but new technologies, such as next-generation sequencing (NGS), continue to emerge. Validation of the new comprehensive NGS-based 24-chromosome aneuploidy screening technology is still needed to determine the preclinical accuracy before it might be considered as an alternative method for human PGS.
resultsIn the present study, 43 human trophectoderm (TE) biopsy samples and 5 cytogenetically characterized cell lines (Coriell Cell Repositories) were tested. The same whole genome amplified product of each sample was blindly assessed with Veriseq NGS and Agilent aCGH to identify the aneuploidy status. The result showed that the NGS identified all abnormalities identified in aCGH including the numeral chromosomal abnormalities (again or loss) in the embryo samples and the structural (partial deletion and duplication) in the Coriell cell lines. Both technologies can identify a segmental imbalance as small as 1.8 Mb in size. Among the 41 TE samples with abnormal karyotypes in this study, eight (19.5 %) samples presented as multiple chromosome abnormalities. The abnormalities occurred to almost all chromosomes, except chromosome 6, 7, 17 and Y chromosome.
conclusionsGiven its reliability and high level of consistency with an established aCGH methodology, NGS has demonstrated a robust high-throughput methodology ready for extensive clinical application in reproductive medicine, with potential advantages of reduced costs and enhanced precision. Then, a randomized controlled clinical trial confirming its clinical effectiveness is advisable to obtain a larger sequencing dataset and more evidence for the extensive use of NGS-based PGS.
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