Birth of a Healthy Infant after Preimplantation Confirmation of Euploidy by Comparative Genomic Hybridization

Wilton, Leeanda; Williamson, Robert; McBain, John; Edgar, David; Voullaire, Lucille

doi:10.1056/nejmoa011052

Cited by 185 publications

(86 citation statements)

References 14 publications

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“…This represents a significant difference to other published single-cell CGH procedures, which are modifications of the DOP-PCR approach and usually result in a zigzag shape of the ratio curve as visible in the respective publications. 2,3,[18][19][20] The high quality of our ratio profiles is probably a reason why the accuracy rate was generally in the range of close to 100%. Therefore, we could use our single-cell CGHapproach already for monitoring minimal residual disease albeit without FISH, 13 and we can now apply our strategy for diagnostic applications (own unpublished data).…”

Section: Discussionmentioning

confidence: 89%

Sequential application of interphase-FISH and CGH to single cells

Langer

Geigl

Gangnus

et al. 2005

Laboratory Investigation

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A comprehensive genomic analysis of single cells is needed for numerous scenarios in tumor genetics, clinical diagnostics and forensic application. PCR protocols were developed which allow an unbiased amplification of the whole genome of a single cell for subsequent analyses by comparative genomic hybridization (CGH). However, verification of single-cell CGH results has been impossible as the procedure naturally involves the destruction of the respective cell. Here we show that the genome of individual cells can be analyzed by two different single cell techniques applied sequentially to the same cell. In a first step, interphase fluorescence in situ hybridization (FISH) is applied. After evaluation of the interphase-FISH signals, cells of interest can be selected for a further analysis. Single cells are collected by laser microdissection, the DNA is amplified by linker-adaptor PCR and subjected to CGH-analysis. This strategy offers new opportunities for a sophisticated selection of cells based on interphase-FISH signals. Furthermore, the sequential application of two different single-cell approaches to the same single-cell represents the only option to control and verify the single-cell CGH results. We demonstrate the feasibility of this approach with a series of experiments including cells from pre-and postnatal diagnostics, for example, cells with trisomies 13, 18, or 21, respectively, leukemia and tumor cells and tissue sections.

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Section: Discussionmentioning

confidence: 89%

Sequential application of interphase-FISH and CGH to single cells

Langer

Geigl

Gangnus

et al. 2005

Laboratory Investigation

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“…Techniques such as comparative genomic hybridization (CGH) applied to single cells are able to test for the copy number of every chromosome (Wilton et al 2001), and the use of single nucleotide polymorphisms (SNP) arrays and quantitative analysis (Wells et al 2008) or "karyomapping" genotyping (Handyside et al 2009) are promising alternative techniques to detect chromosome aneuploidy. However, the resolution limit and accuracy for segment imbalance remain uncertain and it is likely that FISH will continue to be the technique of choice for chromosome rearrangements involving small segments.…”

Section: Discussionmentioning

confidence: 99%

FISH for Pre-implantation Genetic Diagnosis

Scriven

Kirby

Ogilvie

2011

JoVE

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Pre-implantation genetic diagnosis (PGD) is an established alternative to pre-natal diagnosis, and involves selecting pre-implantation embryos from a cohort generated by assisted reproduction technology (ART). This selection may be required because of familial monogenic disease (e.g. cystic fibrosis), or because one partner carries a chromosome rearrangement (e.g. a two-way reciprocal translocation). PGD is available for couples who have had previous affected children, and/or in the case of chromosome rearrangements, recurrent miscarriages, or infertility. Oocytes aspirated following ovarian stimulation are fertilized by in vitro immersion in semen (IVF) or by intracytoplasmic injection of an individual spermatozoon (ICSI). Pre-implantation cleavage-stage embryos are biopsied, usually by the removal of a single cell on day 3 post-fertilization, and the biopsied cell is tested to establish the genetic status of the embryo. Fluorescence in situ hybridization (FISH) on the fixed nuclei of biopsied cells with target-specific DNA probes is the technique of choice to detect chromosome imbalance associated with chromosome rearrangements, and to select female embryos in families with X-linked disease for which there is no mutation-specific test. FISH has also been used to screen embryos for spontaneous chromosome aneuploidy (also known as PGS or PGD-AS) in order to try and improve the efficiency of assisted reproduction; however, the predictive value of this test using the spreading and FISH technique described here is likely to be unacceptably low in most people's hands and it is not recommended for routine clinical use. We describe the selection of suitable probes for single-cell FISH, spreading techniques for blastomere nuclei, and in situ hybridization and signal scoring, applied to PGD in a clinical setting.

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“…Another invasive technique for studying human embryo is comparative genomic hybridization (CGH). CGH is a molecular cytogenetic technique that can be used with single cells in interphase to allow simultaneous enumeration of every chromosome (19). CGH has been successfully applied to the PGS of polar bodies, cleavagestage embryos and blastocysts with promising clinical outcomes.…”

Section: Invasive Technique -Pgd Fish Cgh Pcrmentioning

confidence: 99%

Methods of embryo selection: Positive and negative state of selected methodologies

Miklosova¹,

Sivrev²

2015

TJS

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Methods of embryo selection are based on invasive or noninvasive procedures which have a significant individual benefits and limitation that affect to transfer healthy embryo into uterus. Invasive techniques of preimplantation genetic diagnosis (such as FISH, CGH, PCR) increase implantation rates and reduce frequency of anomalies that are typical for developmental embryos. Using and improvment these techniques represent an effective strategy to reduce multiple gestation because of possibility to transfer singelton embryo during one IVF cycle. Non-invasive techniques such time-lapse microscopy represent new methodology that occur to analyse embryo in stable culture conditions without a risk of sample contamination or sample error. The aim idea of this review was to mention on variable techniques of selecting embryo, their positive and negative statement, and bring a future direction to eventual research.

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Birth of a Healthy Infant after Preimplantation Confirmation of Euploidy by Comparative Genomic Hybridization

Cited by 185 publications

References 14 publications

Sequential application of interphase-FISH and CGH to single cells

Sequential application of interphase-FISH and CGH to single cells

FISH for Pre-implantation Genetic Diagnosis

Methods of embryo selection: Positive and negative state of selected methodologies

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