Validation and first clinical application of karyomapping for preimplantation diagnosis (PGD) of Gaucher disease combined with 24 chromosome screening

Handyside, A.H.; Grifo, J.; Prates, R.; Tormasi, S.; Fischer, Jonathan I.; Munné, S.

doi:10.1016/j.fertnstert.2010.07.309

Cited by 7 publications

(7 citation statements)

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“…These results are applicable to performance of methods that require accurate genotyping and qualitative analysis of aneuploidy, such as those described by Johnson et al . (2010a) and Handyside et al . (2010) , or in situations where one might consider using WGA DNA to genotype-specific genes of interest (i.e.…”

Section: Resultsmentioning

confidence: 96%

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Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses

Treff

Tao

et al. 2010

MHR: Basic Science of Reproductive Medicine

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Methods of comprehensive microarray-based aneuploidy screening in single cells are rapidly emerging. Whole-genome amplification (WGA) remains a critical component for these methods to be successful. A number of commercially available WGA kits have been independently utilized in previous single-cell microarray studies. However, direct comparison of their performance on single cells has not been conducted. The present study demonstrates that among previously published methods, a single-cell GenomePlex WGA protocol provides the best combination of speed and accuracy for single nucleotide polymorphism microarray-based copy number (CN) analysis when compared with a REPLI-g- or GenomiPhi-based protocol. Alternatively, for applications that do not have constraints on turnaround time and that are directed at accurate genotyping rather than CN assignments, a REPLI-g-based protocol may provide the best solution.

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Section: Resultsmentioning

confidence: 96%

“…(2009 ) Treff et al . (2009b ) Handyside et al (2010 ) — — — Chromosome translocation detection — — Johnson et al . (2010b ) Treff et al .…”

Section: Whole-genome Amplificationmentioning

confidence: 99%

Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses

Treff

Tao

et al. 2010

MHR: Basic Science of Reproductive Medicine

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“…Furthermore, the success of the specific methodologies evaluated in these studies cannot be considered applicable to all CCS technologies given the significant number of differences that exist. Once other unique modalities such as array CGH [16][17][18] and other SNP microarray approaches 12,19,20 are properly validated, it may be feasible to perform head-to-head trials comparing accuracy and clinical benefit.…”

Section: Randomized Controlled Trialmentioning

confidence: 99%

Comprehensive Chromosome Screening and Embryo Selection: Moving Toward Single Euploid Blastocyst Transfer

et al. 2012

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Interest in using aneuploidy screening to select embryos has been renewed with the introduction of new methods for comprehensive chromosome screening (CCS) that evaluate all 24 chromosomes. With a series of experiments providing level I evidence of accuracy, reliability, safety, predictive value, and clinical efficacy, CCS-based selection of a single euploid blastocyst may provide an opportunity to finally realize the potential benefits and practical application of elective single embryo transfer. Furthermore, by incorporating CCS into research and development to control for chromosomal contribution to reproductive potential, additional biomarkers may now be more readily identified that help to further enhance the efficacy of embryo selection technology. This review describes the critical components of a valid CCS embryo selection methodology and discusses the limitations and opportunities for future routine application in reproductive medicine.

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“…Although simultaneous aneuploidy (using mCGH [ 24 , 40 , 41 ] and SNP arrays [ 18 , 42 ]) and single gene (using conventional PCR) analysis has been reported, SNP array based haplotype methodologies provide the ability to avoid the time and expense of preparing PCR based family specific informative markers of the mutation but may be limited when additional family members are not available to define haplotype phases. A recent study illustrated the use of SNP arrays to predict inheritance of monogenic disease through haplotype based analysis [ 17 ] and has applied the methodology clinically [ 43 ]. Another group presented a similar application of SNP arrays with results confirmed from antenatal analysis of 3 pregnancies [ 44 ].…”

Section: Comprehensive Chromosome Screening (Ccs) Methodologiesmentioning

confidence: 99%

Methods for comprehensive chromosome screening of oocytes and embryos: capabilities, limitations, and evidence of validity

Treff

Scott

2012

J Assist Reprod Genet

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Preimplantation aneuploidy screening of cleavage stage embryos using fluorescence in situ hybridization (FISH) may no longer be considered the standard of care in reproductive medicine. Over the last few years, there has been considerable development of novel technologies for comprehensive chromosome screening (CCS) of the human genome. Among the notable methodologies that have been incorporated are whole genome amplification, metaphase and array based comparative genomic hybridization, single nucleotide polymorphism microarrays, and quantitative real-time PCR. As these methods become more integral to treating patients with infertility, it is critical that clinicians and scientists obtain a better understanding of their capabilities and limitations. This article will focus on reviewing these technologies and the evidence of their validity.

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Validation and first clinical application of karyomapping for preimplantation diagnosis (PGD) of Gaucher disease combined with 24 chromosome screening

Cited by 7 publications

References 0 publications

Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses

Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses

Comprehensive Chromosome Screening and Embryo Selection: Moving Toward Single Euploid Blastocyst Transfer

Methods for comprehensive chromosome screening of oocytes and embryos: capabilities, limitations, and evidence of validity

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