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• W2012024614 abstract "ObjectiveTo evaluate the rate of triploidy, uniparental disomy (UPD), and clinically significant deletions (DEL) and duplications (DUP) that exists in PGS samples evaluated by 23 chromosome SNP microarray.DesignRetrospective.Materials and MethodsAll embryos that underwent PGS by 23 chromosome SNP microarrays from 1/1/2010 to 1/25/2011 were evaluated. Patients underwent standard in vitro fertilization (IVF) and PGS due to primarily a history of > 2 spontaneous miscarriages. Embryo biopsy was performed at either the cleavage or blastocyst stage. Sample DNA was amplified and analyzed using HumanCytoSNP-12 DNA beadchips and GenomeStudio and KaryoStudio software. Parental DNA was analyzed and compared to embryonic cells to determine the presence of benign copy number variations. Embryos derived from parents with known translocations or inversions were excluded from the study.Results1,901 embryos from 236 clinical IVF cycles were tested. 37.2% (707/1901) of all embryos were euploid without DUP or DEL. Morphologic fragmentation on some embryos led to 9.6% (183/1901) embryos with no molecular diagnosis obtained.Of the remaining 1011 abnormal embryos, 5.7% (58/1011) had DUP or DEL with no aneuploidy and 27.4% (277/1011) had DUP or DEL coupled with aneuploidy. 66.7% (674/1011) had aneuploidy without DUP or DEL. Of these, 58 were triploid. 0.2% (2/1011) chromosomally normal embryos were diagnosed with UPD.11.5% (116/1011) of the abnormal embryos identified by SNP microarrays would have been missed without the ability to identify DUP, DEL, triploidy, and UPD.ConclusionCGH arrays use ratio labeling that prevents genotyping and only analyzes approximately 4000 genomic markers. Therefore CGH arrays would have failed to identify the 11.5% of abnormal embryos in this study. However, recent evidence by targeted DNA sequencing suggests that it is possible that some of these DELs and DUPs may not have a deleterious effect in live born infants. ObjectiveTo evaluate the rate of triploidy, uniparental disomy (UPD), and clinically significant deletions (DEL) and duplications (DUP) that exists in PGS samples evaluated by 23 chromosome SNP microarray. To evaluate the rate of triploidy, uniparental disomy (UPD), and clinically significant deletions (DEL) and duplications (DUP) that exists in PGS samples evaluated by 23 chromosome SNP microarray. DesignRetrospective. Retrospective. Materials and MethodsAll embryos that underwent PGS by 23 chromosome SNP microarrays from 1/1/2010 to 1/25/2011 were evaluated. Patients underwent standard in vitro fertilization (IVF) and PGS due to primarily a history of > 2 spontaneous miscarriages. Embryo biopsy was performed at either the cleavage or blastocyst stage. Sample DNA was amplified and analyzed using HumanCytoSNP-12 DNA beadchips and GenomeStudio and KaryoStudio software. Parental DNA was analyzed and compared to embryonic cells to determine the presence of benign copy number variations. Embryos derived from parents with known translocations or inversions were excluded from the study. All embryos that underwent PGS by 23 chromosome SNP microarrays from 1/1/2010 to 1/25/2011 were evaluated. Patients underwent standard in vitro fertilization (IVF) and PGS due to primarily a history of > 2 spontaneous miscarriages. Embryo biopsy was performed at either the cleavage or blastocyst stage. Sample DNA was amplified and analyzed using HumanCytoSNP-12 DNA beadchips and GenomeStudio and KaryoStudio software. Parental DNA was analyzed and compared to embryonic cells to determine the presence of benign copy number variations. Embryos derived from parents with known translocations or inversions were excluded from the study. Results1,901 embryos from 236 clinical IVF cycles were tested. 37.2% (707/1901) of all embryos were euploid without DUP or DEL. Morphologic fragmentation on some embryos led to 9.6% (183/1901) embryos with no molecular diagnosis obtained.Of the remaining 1011 abnormal embryos, 5.7% (58/1011) had DUP or DEL with no aneuploidy and 27.4% (277/1011) had DUP or DEL coupled with aneuploidy. 66.7% (674/1011) had aneuploidy without DUP or DEL. Of these, 58 were triploid. 0.2% (2/1011) chromosomally normal embryos were diagnosed with UPD.11.5% (116/1011) of the abnormal embryos identified by SNP microarrays would have been missed without the ability to identify DUP, DEL, triploidy, and UPD. 1,901 embryos from 236 clinical IVF cycles were tested. 37.2% (707/1901) of all embryos were euploid without DUP or DEL. Morphologic fragmentation on some embryos led to 9.6% (183/1901) embryos with no molecular diagnosis obtained. Of the remaining 1011 abnormal embryos, 5.7% (58/1011) had DUP or DEL with no aneuploidy and 27.4% (277/1011) had DUP or DEL coupled with aneuploidy. 66.7% (674/1011) had aneuploidy without DUP or DEL. Of these, 58 were triploid. 0.2% (2/1011) chromosomally normal embryos were diagnosed with UPD. 11.5% (116/1011) of the abnormal embryos identified by SNP microarrays would have been missed without the ability to identify DUP, DEL, triploidy, and UPD. ConclusionCGH arrays use ratio labeling that prevents genotyping and only analyzes approximately 4000 genomic markers. Therefore CGH arrays would have failed to identify the 11.5% of abnormal embryos in this study. However, recent evidence by targeted DNA sequencing suggests that it is possible that some of these DELs and DUPs may not have a deleterious effect in live born infants. CGH arrays use ratio labeling that prevents genotyping and only analyzes approximately 4000 genomic markers. Therefore CGH arrays would have failed to identify the 11.5% of abnormal embryos in this study. However, recent evidence by targeted DNA sequencing suggests that it is possible that some of these DELs and DUPs may not have a deleterious effect in live born infants." @default.
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• W2012024614 title "23-chromosome single nucleotide polymorphism (SNP) microarray detects genomic aberrations that may be missed by comparative genomic hybridization (CGH) arrays in preimplantation genetic screening (PGS)" @default.
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