AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

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Presentation transcript:

AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS

EUPLOIDY

ANEUPLOIDY

Aneuploidy rate in day 5 embryos Harton et al, 2013 Fert Steril Dec 100 (6): Live birth rate HFEA Fertility Treatment in 2012: trends and figures 42 Maternal age 100% 80% 60% 40% 20% 0%

PRE-IMPLANTATION GENETIC SCREENING (PGS)

Selecting only euploid embryos to transfer with PGS has been demonstrated to: reduce the time to pregnancy (and IVF success); reduce the risk of miscarriage; overcome the adverse effect of maternal age on IVF success; allow the selection of only euploid embryos for freezing; and reduce the risk of multiple pregnancy from IVF by supporting single embryo transfer 96 percent of aneuploid embryos fail to implant Scott et al 2012 Fert Steril Apr 97 (4): 870-5

EmbryoCellect™ is for research use only and is not for use in diagnostic procedures. EmbryoCellect TM Pre-implantation Genetic Screening Kit

SAMPLE COLLECTION – EMBRYO BIOPSY

EmbryoCellect TM Pre-implantation Genetic Screening Kit CELL LYSIS & AMPLIFICATION

EmbryoCellect TM Pre-implantation Genetic Screening Kit LABELLING TEST SAMPLE REFERENCE 45mins

EmbryoCellect TM Pre-implantation Genetic Screening Kit

EmbryoCellect TM Pre-implantation Genetic Screening Kit HYBRIDISATION TEST REFERENCE 3hrs - overnight

EmbryoCellect TM Pre-implantation Genetic Screening Kit RESULT: EUPLOID TEST REFERENCE

EmbryoCellect TM Pre-implantation Genetic Screening Kit RESULT: TRISOMY TEST REFERENCE

EmbryoCellect TM Pre-implantation Genetic Screening Kit RESULT: MONOSOMY TEST REFERENCE

TRISOMY MONOSOMY Ratio test:reference Chromosome

EmbryoCellect™ Kit contents Cell lysis buffer and enzyme for lysing the sample cells Reference male gDNA Whole Genome Amplification (WGA) reagents Fluorescent labelling PCR reagents Five patented EmbryoCellect™ microarray slides with four microarrays per slide Software: An Excel macro that analyses the microarray scanner-generated data file The EmbryoCellect™ kit contains enough reagents to test 20 samples

The test is simple and robust The results are easy to interpret The raw scanner data is available for IVF labs to use for internal QC, if required The test has been validated for accuracy The test has been designed for labs to bring testing in- house by providing the flexibility to run small numbers of samples Why EmbryoCellect™?

EmbryoCellect TM Pre-implantation Genetic Screening Kit LABORATORY SET UP OVERVIEW SPACE - Dedicated PCR-free laboratory & PCR laboratory STAFF – Experience in molecular biology / PCR EQUIPMENT – Microarray scanner (€35k) and other general molecular biology laboratory equipment (~ € 35k)

EmbryoCellect TM Pre-implantation Genetic Screening Kit VERSUS 24SURE EmbryoCellect™24sure Data obtainedWhole chromosome aneuploidy Unbalanced segmental errors >10Mb Main equipment costScanner =~ € 35k Batch size InterpretationEasyModerate

EmbryoCellect TM Pre-implantation Genetic Screening Kit VERSUS Next Generation Sequencing EmbryoCellect™NGS Data obtainedWhole chromosome aneuploidy Unbalanced segmental errors >10Mb Main equipment costScanner = ~ € 35kMiSeq= ~ € 100k Batch size424 InterpretationEasyComplicated