Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of β-thalassaemia: a pilot study

Kokkali, Georgia; Traeger-Synodinos, Joanne; Vrettou, Christina; Stavrou, D; Jones, Gayle M; Cram, David S.; Makrakis, Evangelos; Trounson, Alan; Kanavakis, E; Pantos, Konstantinos

doi:10.1093/humrep/del506

Cited by 154 publications

(104 citation statements)

References 47 publications

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“…At present, blastocyst stage is the optimal time to perform biopsies for preimplantation genetic testing [10]. Trophectoderm biopsies do less harm to development of the embryo [20], while blastocyst biopsy can obtain multiple trophectoderm cells, resulting in an increased number of DNA copies in the biopsy specimen, and therefore more accurate results compared with a single blastomere cell [21]. In our study, we also found that there were less noisy results at blastocyst stage than that at cleavage stage.…”

Section: Discussionsupporting

confidence: 58%

Chromosomal characteristics at cleavage and blastocyst stages from the same embryos

Huang

Zhao

Wang

et al. 2015

J Assist Reprod Genet

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Purpose To investigate chromosomal characteristics in the same embryos at cleavage and blastocyst stage. Methods Six PGD/PGS cycles were retrospective studied, including five chromosomal translocation PGD cycles and one recurrent abortion PGS cycle. The cleavage embryos were biopsied one blastomere at day 3, followed by blastocyst culture. Trophectoderm cell biopsy was performed when embryos developed into the blastocyst stage. Whole genome amplification and 24-chromosomal analysis by CGH/SNP microarray was performed on each blastomere and trophectoderm cells. Results After PGD/PGS, only one couple had no euploid embryos to transfer. Five couples delivered a healthy, balancedkaryotype baby. A total of 18 embryos had both blastomere and trophectoderm cell reliable results available. Of the 18 embryos, eleven embryos contained identical chromosomes from cleavage stage to blastocyst stage and six embryos contained almost identical chromosomes . Only one embryo presented opposite chromosomal results for the cleavage and blastocyst stage, with abnormal chromosomes in the blastomere but normal chromosomes in trophectoderm cells. Conclusions Most embryos maintain chromosomal stability during embryonic development. Compared to cleavage stage, blastocyst stage may provide more reliable aneuploidy results.

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Section: Discussionsupporting

confidence: 58%

Chromosomal characteristics at cleavage and blastocyst stages from the same embryos

Huang

Zhao

Wang

et al. 2015

J Assist Reprod Genet

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“…It was recently suggested that a trophectoderm biopsy from a day 5 blastocyst has a less harmful effect on further embryonic development compared to blastomere biopsy of day 3 cleavage-stage embryos [3,8,11,44,45]. Scott et al identified blastocyst-stage biopsy as a procedure that does not affect embryo viability and implantation potential as opposed to blastomere biopsy [4].…”

Section: Discussionmentioning

confidence: 99%

Blastomere biopsy for PGD delays embryo compaction and blastulation: a time-lapse microscopic analysis

Bar-El

Kalma

Malcov

et al. 2016

J Assist Reprod Genet

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Purpose The purpose of the study was to explore the effect of blastomere biopsy for preimplantation genetic diagnosis (PGD) on the embryos' dynamics, further cleavage, development, and implantation. Methods The study group included 366 embryos from all PGD treatments (September 2012 to June 2014) cultured in the EmbryoScope™ time-lapse monitoring system. The control group included all intracytoplasmic sperm injection (ICSI) embryos cultured in EmbryoScope™ until day 5 during the same time period (385 embryos). Time points of key embryonic events were analyzed with an EmbryoViewer™. Results Most (88 %) of the embryos were biopsied at ≥8 cells. These results summarize the further dynamic development of the largest cohort of biopsied embryos and demonstrate that blastomere biopsy of cleavage-stage embryos significantly delayed compaction and blastulation compared to the control non-biopsied embryos. This delay in preimplanation developmental events also affected postimplantation development as observed when the dynamics of non-implanted embryos (known implantation data (KID) negative) were compared to those of implanted embryos (KID positive). Conclusion Analysis of morphokinetic parameters enabled us to explore how blastomere biopsy interferes with the dynamic sequence of developmental events. Our results show that biopsy delays the compaction and the blastulation of the embryos, leading to a decrease in implantation.

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“…Removing a few cells from the trophectoderm while leaving the ICM undisturbed in theory has the potential for less adverse effects on the developing embryo and the advantage of providing more cells for analysis, than blastomere biopsy. A study by Kokkali et al [13] demonstrated an improved implantation rate with blastocyst biopsy over cleavage biopsy and subsequent studies support these findings [14].…”

Section: Trophectoderm Biopsy and Improved Methods For Pgs And Pgdmentioning

confidence: 90%

Chromosomal Preimplantation Genetic Diagnosis: 25 Years and Counting

Sanders

Griffin

2017

Journal of Fetal Medicine

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Preimplantation genetic diagnosis (PGD), first successfully carried out in humans in the early 1990s, initially involved the PCR sexing of embryos by Y-(and later also X-) chromosome specific detection. Because of the problems relating to misdiagnosis and contamination of this technology however the PCR based test was superseded by a FISH-based approach involving X and Y specific probes. Sexing by FISH heralded translocation screening, which was shortly followed by preimplantation genetic screening (PGS) for Aneuploidy. Aneuploidy is widely accepted to be the leading cause of implantation failure in assisted reproductive technology (ART) and a major contributor to miscarriage, especially in women of advanced maternal age. PGS (AKA PGD for aneuploidy PGD-A) has had a chequered history, with conflicting lines of evidence for and against its use. The current practice of trophectoderm biopsy followed by array CGH or next generation sequencing is gaining in popularity however as evidence for its efficacy grows. PGS has the potential to identify viable embryos that can be transferred thereby reducing the chances of traumatic failed IVF cycles, miscarriage or congenital abnormalities and facilitating the quickest time to live birth of chromosomally normal offspring. In parallel to chromosomal diagnoses, technology for PGD has allowed for improvements in accuracy and efficiency of the genetic screening of embryos for monogenic disorders. The number of genetic conditions available for screening has increased since the early days of PGD, with the human fertilization and embryology authority currently licensing 419 conditions in the UK [1]. A novel technique known as karyomapping that involves SNP chip screening and tracing inherited chromosomal haploblocks is now licensed for the PGD detection of monogenic disorders. Its potential for the universal detection of chromosomal and monogenic disorders simultaneously however, has yet to be realized.

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Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of β-thalassaemia: a pilot study

Abstract: This pilot study suggests that trophectoderm biopsy and blastocyst transfer may be more advantageous than cleavage stage biopsy with respect to outcome of PGD for monogenic diseases.

Cited by 154 publications

References 47 publications

Chromosomal characteristics at cleavage and blastocyst stages from the same embryos

Chromosomal characteristics at cleavage and blastocyst stages from the same embryos

Blastomere biopsy for PGD delays embryo compaction and blastulation: a time-lapse microscopic analysis

Chromosomal Preimplantation Genetic Diagnosis: 25 Years and Counting

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