ArticleCurrent genomics2012
Preimplantation genetic diagnosis for aneuploidy and translocations using array comparative genomic hybridization.
Article in Current genomics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed, 80 citations in OpenAlex.
- Increasing live birth rate by preimplantation genetic screening of pooled polar bodies using array comparative genomic hybridization.PloS one · 2015Trial
- Changes in sequencing technology used for preimplantation genetic testing for aneuploidy.Journal of assisted reproduction and genetics · 2025Review
- Clinical outcomes in carriers of insertional translocation: a retrospective analysis of comprehensive chromosome screening results.F&S reports · 2024Article
- Array-Based Comparative Genomic Hybridization for the Detection of Copy Number Alterations in Single Cells.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Pregnancy and Neonatal Outcomes after Transfer of Mosaic Embryos: A Review.Journal of clinical medicine · 2021Review
- Review
- The Clinical Effectiveness of Preimplantation Genetic Diagnosis for Chromosomal Translocation Carriers: A Meta-analysis.Global medical genetics · 2020Review
- The mechanisms and clinical application of mosaicism in preimplantation embryos.Journal of assisted reproduction and genetics · 2020Review
- Journal Current Genomics: News and Editorial Prospects.Current genomics · 2019Article
- A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure.Balkan journal of medical genetics : BJMG · 2018Article
- Natural selection between day 3 and day 5/6 PGD embryos in couples with reciprocal or Robertsonian translocations.Journal of assisted reproduction and genetics · 2017Article
- Systematic comparison of two whole-genome amplification methods for targeted next-generation sequencing using frozen and FFPE normal and cancer tissues.Scientific reports · 2017Article
- Whole Genome Amplification of Day 3 or Day 5 Human Embryos Biopsies Provides a Suitable DNA Template for PCR-Based Techniques for Genotyping, a Complement of Preimplantation Genetic Testing.BioMed research international · 2017Article
- Article
- Accuracy of preimplantation genetic screening (PGS) is compromised by degree of mosaicism of human embryos.Reproductive biology and endocrinology : RB&E · 2016Article
- Clinical application of next-generation sequencing in preimplantation genetic diagnosis cycles for Robertsonian and reciprocal translocations.Journal of assisted reproduction and genetics · 2016Article
- Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing.Genome research · 2015Article
- Current status of preimplantation genetic diagnosis in Japan.Bioinformation · 2015Article
- Single cell segmental aneuploidy detection is compromised by S phase.Molecular cytogenetics · 2014Article
- Letter to the editor by megan Hall.Current genomics · 2013Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
At least 50% of human embryos are abnormal, and that increases to 80% in women 40 years or older. These abnormalities result in low implantation rates in embryos transferred during in vitro fertilization procedures, from 30% in women <35 years to 6% in women 40 years or older. Thus selecting normal embryos for transfer should improve pregnancy results. The genetic analysis of embryos is called Preimplantation Genetic Diagnosis (PGD) and for chromosome analysis it was first performed using FISH with up to 12 probes analyzed simultaneously on single cells. However, suboptimal utilization of the technique and the complexity of fixing single cells produced conflicting results. PGD has been invigorated by the introduction of microarray testing which allows for the analysis of all 24 chromosome types in one test, without the need of cell fixation, and with staggering redundancy, making the test much more robust and reliable. Recent data published and presented at scientific meetings has been suggestive of increased implantation rates and pregnancy rates following microarray testing, improvements in outcome that have been predicted for quite some time. By using markers that cover most of the genome, not only aneuploidy can be detected in single cells but also translocations. Our validation results indicate that array CGH has a 6Mb resolution in single cells, and thus the majority of translocations can be analyzed since this is also the limit of karyotyping. Even for translocations with smaller exchanged fragments, provided that three out of the four fragments are above 6Mb, the translocation can be detected.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.