1 Corporate presentation 2013 Preimplantation Aneuploidy Testing: on day 3 embryos or on blastocyst? Carmen Rubio Valencia, Spain PGS: technology evolution 2014 2008 2010 2012 1991-1995 FISH Array Comparative Genomic Hybridization (aCGH) Single-nucleotide polymorphism (SNP) microarray Quantitative polymerase chain reaction (qPCR) Next- Generation Sequencing (NGS) 2-12 chromosomes 24 chromosomes PCR Analysis of a identified single gene disease 24 chromosomes + Mit DNA; mutations Mostly day-3 biopsies 2 blastomeres learning curves Blastocyst biopsy Deferred transfer Good prognosis
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Corporate presentation 2013
Preimplantation Aneuploidy Testing:
on day 3 embryos or on blastocyst?
Carmen Rubio
Valencia, Spain
PGS: technology evolution
2014
2008 2010 2012
1991-1995
FISHArray
Comparative Genomic
Hybridization (aCGH)
Single-nucleotide polymorphism
(SNP) microarray
Quantitative polymerase
chain reaction (qPCR)
Next-Generation Sequencing
(NGS)
2-12 chromosomes 24 chromosomes
PCR
Analysis of a identified single gene disease 24 chromosomes
+
Mit DNA; mutations
Mostly day-3 biopsies2 blastomereslearning curves
Blastocyst biopsyDeferred transferGood prognosis
2
Day-3 biopsy: aCGH vs. FISH
PGS with aCGH achieves better reproductiveoutcome than FISH (24-chr. vs. 9 chr.) (2010-2011)
aCGH vs. NGS
Day-3 biopsies: N= 6,934 aCGH vs. 284 NGS cycles
NGS and aCGH inform of similar % abnormal embryos, pregnancy and
implantation rates, with a trend towards lower miscarriage rates in NGS
3
Validation of PGS-NGS
Concordance with aCGH: euploid embryo
Validation of PGS-NGS
Concordance NGS/aCGH: aneuploid embryo
4
Day-5 /Day-6 transfer
PGS with aCGH and NGS
NGS technology
Blastocyst biopsies:
335 aCGH
60 NGS
Day-3 biopsies:
6,934 aCGH
284 NGS
36,281 embryos with day-3 biopsies1,750 embryos with day-5/6 biopsies
aCGH: abnormal embryos
0
20
40
60
80
100
120
Tr D3 Tr D5/6
Percentage of abnormal embryos (38,031 embryos analyzed)
5
Day-3 vs. blastocyst biopsies
0
10
20
30
40
50
60
70
80
90
100
Tr D3 Tr D5
6,934 cycles with day-3 biopsies335 cycles with day-5/6 biopsies
Percentage of cycles with euploid embryos (7,269 cycles)