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• W2058900110 abstract "ObjectiveTrophectoderm (TE) biopsy at the blastocyst stage is increasingly used in conjunction with preimplantation genetic screening (PGS). Recently, one study reported evidence of DNA within the blastocoele fluid (Palini et al. 2013), raising the possibility that sampling of genetic material could be simplified. This study tested whether blastocoele fluid aspiration provides an adequate source of DNA for chromosome analysis.DesignProspective blinded sampling study.Materials and MethodsBlastocoele fluid was sampled from 9 fresh and 23 previously frozen blastocysts using an ICSI needle. The fluid was expelled into a 3ul drop of PBS and transferred to a microcentrifuge tube. Fluid and cells from each embryo underwent whole genome amplification and comprehensive chromosome analysis using aCGH.ResultsOf the 32 fluid samples analyzed, 19 (59.4%) displayed no DNA amplification, 4 (12.5%) produced chaotic profiles, and 9 (28.1%) produced analyzable results. Of the 9 samples with results, 3 (33.3%) yielded data concordant with that of the corresponding TE biopsy; 5 (55.6%) gave an abnormal result while the TE biopsy was normal; 1 (11.1%) suggested complex aneuploidy while the TE biopsy indicated trisomy 16.ConclusionEmbryonic DNA can be detected in the blastocoele fluid of some embryos. However, using this material for genetic diagnosis may be challenging and require a careful reassessment of DNA processing in order to optimize results. Results of aCGH are frequently suboptimal and/or inconsistent, in some cases leading to false positive detection of aneuploidy. Aspirated DNA is likely to be degraded, possibly from apoptotic cells shed into the blastocoele cavity, however sexing of embryos without DNA amplification may still be possible. Blastocoele fluid aspiration remains an interesting area for future research, but results using current protocols are not comparable to those obtained via traditional TE biopsy. Future blastocoele sampling applications cannot be ruled out based on this pilot study. ObjectiveTrophectoderm (TE) biopsy at the blastocyst stage is increasingly used in conjunction with preimplantation genetic screening (PGS). Recently, one study reported evidence of DNA within the blastocoele fluid (Palini et al. 2013), raising the possibility that sampling of genetic material could be simplified. This study tested whether blastocoele fluid aspiration provides an adequate source of DNA for chromosome analysis. Trophectoderm (TE) biopsy at the blastocyst stage is increasingly used in conjunction with preimplantation genetic screening (PGS). Recently, one study reported evidence of DNA within the blastocoele fluid (Palini et al. 2013), raising the possibility that sampling of genetic material could be simplified. This study tested whether blastocoele fluid aspiration provides an adequate source of DNA for chromosome analysis. DesignProspective blinded sampling study. Prospective blinded sampling study. Materials and MethodsBlastocoele fluid was sampled from 9 fresh and 23 previously frozen blastocysts using an ICSI needle. The fluid was expelled into a 3ul drop of PBS and transferred to a microcentrifuge tube. Fluid and cells from each embryo underwent whole genome amplification and comprehensive chromosome analysis using aCGH. Blastocoele fluid was sampled from 9 fresh and 23 previously frozen blastocysts using an ICSI needle. The fluid was expelled into a 3ul drop of PBS and transferred to a microcentrifuge tube. Fluid and cells from each embryo underwent whole genome amplification and comprehensive chromosome analysis using aCGH. ResultsOf the 32 fluid samples analyzed, 19 (59.4%) displayed no DNA amplification, 4 (12.5%) produced chaotic profiles, and 9 (28.1%) produced analyzable results. Of the 9 samples with results, 3 (33.3%) yielded data concordant with that of the corresponding TE biopsy; 5 (55.6%) gave an abnormal result while the TE biopsy was normal; 1 (11.1%) suggested complex aneuploidy while the TE biopsy indicated trisomy 16. Of the 32 fluid samples analyzed, 19 (59.4%) displayed no DNA amplification, 4 (12.5%) produced chaotic profiles, and 9 (28.1%) produced analyzable results. Of the 9 samples with results, 3 (33.3%) yielded data concordant with that of the corresponding TE biopsy; 5 (55.6%) gave an abnormal result while the TE biopsy was normal; 1 (11.1%) suggested complex aneuploidy while the TE biopsy indicated trisomy 16. ConclusionEmbryonic DNA can be detected in the blastocoele fluid of some embryos. However, using this material for genetic diagnosis may be challenging and require a careful reassessment of DNA processing in order to optimize results. Results of aCGH are frequently suboptimal and/or inconsistent, in some cases leading to false positive detection of aneuploidy. Aspirated DNA is likely to be degraded, possibly from apoptotic cells shed into the blastocoele cavity, however sexing of embryos without DNA amplification may still be possible. Blastocoele fluid aspiration remains an interesting area for future research, but results using current protocols are not comparable to those obtained via traditional TE biopsy. Future blastocoele sampling applications cannot be ruled out based on this pilot study. Embryonic DNA can be detected in the blastocoele fluid of some embryos. However, using this material for genetic diagnosis may be challenging and require a careful reassessment of DNA processing in order to optimize results. Results of aCGH are frequently suboptimal and/or inconsistent, in some cases leading to false positive detection of aneuploidy. Aspirated DNA is likely to be degraded, possibly from apoptotic cells shed into the blastocoele cavity, however sexing of embryos without DNA amplification may still be possible. Blastocoele fluid aspiration remains an interesting area for future research, but results using current protocols are not comparable to those obtained via traditional TE biopsy. Future blastocoele sampling applications cannot be ruled out based on this pilot study." @default.
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• W2058900110 title "Validation of blastocoele fluid aspiration for preimplantation genetic screening using array comparative genomic hybridization (aCGH)" @default.
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