ArticleEuropean journal of human genetics : EJHG2012
SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation.The Cochrane database of systematic reviews · 2020Pooled it
- Preimplantation Genetic Screening and The Success Rate ofCell journal · 2021Article
- Article
- Variations in chromosomal aneuploidy rates in IVF blastocysts and early spontaneous abortion chorionic villi.Journal of assisted reproduction and genetics · 2020Article
- Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR).Journal of assisted reproduction and genetics · 2019Article
- Long-read sequencing and haplotype linkage analysis enabled preimplantation genetic testing for patients carrying pathogenic inversions.Journal of medical genetics · 2019Article
- The establishment and application of preimplantation genetic haplotyping in embryo diagnosis for reciprocal and Robertsonian translocation carriers.BMC medical genomics · 2017Article
- Article
- Prenatal and pre-implantation genetic diagnosis.Nature reviews. Genetics · 2016Review
- SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts.Journal of assisted reproduction and genetics · 2016Article
- Developmental potential of clinically discarded human embryos and associated chromosomal analysis.Scientific reports · 2016Article
- Article
- Meiotic outcomes of three-way translocations ascertained in cleavage-stage embryos: refinement of reproductive risks and implications for PGD.European journal of human genetics : EJHG · 2014Article
- Single cell segmental aneuploidy detection is compromised by S phase.Molecular cytogenetics · 2014Article
- Single cell genomics: advances and future perspectives.PLoS genetics · 2014Review
- Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study.European journal of human genetics : EJHG · 2013Article
- Genome-wide copy number profiling of single cells in S-phase reveals DNA-replication domains.Nucleic acids research · 2013Article
- Preimplantation genetic diagnosis guided by single-cell genomics.Genome medicine · 2013Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Preimplantation genetic diagnosis (PGD) for chromosomal rearrangements (CR) is mainly based on fluorescence in situ hybridisation (FISH). Application of this technique is limited by the number of available fluorochromes, the extensive preclinical work-up and technical and interpretative artefacts. We aimed to develop a universal, off-the-shelf protocol for PGD by combining single-nucleotide polymorphism (SNP) array-derived copy number (CN) determination and genotyping for detection of unbalanced translocations in cleavage-stage embryos. A total of 36 cleavage-stage embryos that were diagnosed as unbalanced by initial PGD FISH analysis were dissociated (n=146) and amplified by multiple displacement amplification (MDA). SNP CNs and genotypes were determined using SNP array. Epstein-Barr Virus-transformed cell lines with known CR were used for optimising the genomic smoothing (GS) length setting to increase signal to noise ratio. SNP CN analysis showed 23 embryos (64%) that were unbalanced in all blastomeres for the chromosomes involved in the translocation, 5 embryos (14%) that were normal or balanced in all blastomeres and 8 embryos (22%) that were mosaic. SNP genotyping, based on analysis of informative SNP loci with opposing homozygous parental genotypes, confirmed partial monosomies associated with inheritance of unbalanced translocation in surplus embryos. We have developed a universal MDA-SNP array technique for chromosome CN analysis in single blastomeres. SNP genotyping could confirm partial monosomies. This combination of techniques showed improved diagnostic specificity compared with FISH and may provide more reliable PGD analysis associated with higher embryo transfer rate.
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