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AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

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AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS
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Page 1: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

AT THE FOREFRONT OFSINGLE CELL GENETIC ANALYSIS

Page 2: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

EUPLOIDY

Page 3: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

ANEUPLOIDY

Page 4: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

Aneuploidy rate in day 5 embryosHarton et al, 2013 Fert Steril Dec 100 (6): 1695-703

Live birth rateHFEA Fertility Treatment in 2012: trends and figures

<35 35-37 38-40 41-42 >42Maternal age

100%

80%

60%

40%

20%

0%

Page 5: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

PRE-IMPLANTATION GENETIC SCREENING

(PGS)

Page 6: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

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

Page 7: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

EmbryoCellect™ is for research use only and is not for use in diagnostic procedures.

EmbryoCellectTM

Pre-implantation Genetic Screening Kit

Page 8: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

SAMPLE COLLECTION – EMBRYO BIOPSY

Page 9: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

EmbryoCellectTM

Pre-implantation Genetic Screening Kit

CELL LYSIS & AMPLIFICATION

15mins 2.5

hrs

Page 10: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

EmbryoCellectTM

Pre-implantation Genetic Screening KitLABELLING

TEST SAMPLE REFERENCE

45mins

Page 11: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

EmbryoCellectTM

Pre-implantation Genetic Screening Kit

Page 12: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

EmbryoCellectTM

Pre-implantation Genetic Screening KitHYBRIDISATION

TEST REFERENCE

3hrs -overnig

ht

Page 13: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

EmbryoCellectTM

Pre-implantation Genetic Screening KitRESULT: EUPLOID

TEST REFERENCE

Page 14: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

EmbryoCellectTM

Pre-implantation Genetic Screening KitRESULT: TRISOMY

TEST REFERENCE

Page 15: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

EmbryoCellectTM

Pre-implantation Genetic Screening KitRESULT: MONOSOMY

TEST REFERENCE

Page 16: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.
Page 17: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.
Page 18: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

TRISOMY

MONOSOMYRati

o t

est

:refe

ren

ce

Chromosome

Page 19: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

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

Page 20: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

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™?

Page 21: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

EmbryoCellectTM

Pre-implantation Genetic Screening KitLABORATORY SET UP OVERVIEWSPACE - Dedicated PCR-free laboratory & PCR

laboratory

STAFF – Experience in molecular biology / PCR

EQUIPMENT – Microarray scanner (€35k) and

other general molecular biology laboratory

equipment (~ € 35k)

Page 22: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

EmbryoCellectTM

Pre-implantation Genetic Screening KitVERSUS 24SURE

EmbryoCellect™ 24sure

Data obtained Whole chromosome aneuploidy

Whole chromosome aneuploidy

Unbalanced segmental errors >10Mb

Main equipment cost

Scanner =~ € 35k Scanner = ~ € 35k

Batch size 4 12-24

Interpretation Easy Moderate

Page 23: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

EmbryoCellectTM

Pre-implantation Genetic Screening KitVERSUS Next Generation Sequencing

EmbryoCellect™ NGS

Data obtained Whole chromosome aneuploidy

Whole chromosome aneuploidy

Unbalanced segmental errors >10Mb

Main equipment cost

Scanner = ~ € 35k MiSeq= ~ € 100k

Batch size 4 24

Interpretation Easy Complicated

Page 24: AT THE FOREFRONT OF SINGLE CELL GENETIC ANALYSIS.

www.rhsc.com.au


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