FISH reanalysis of inner cell mass and trophectoderm samples of previously array-CGH screened blastocysts shows high accuracy of diagnosis and no major diagnostic impact of mosaicism at the blastocyst stage

Capalbo, Antonio; Wright, Graham; Elliott, Thomas; Ubaldi, Filippo Maria; Rienzi, Laura; Nagy, Zsolt

doi:10.1093/humrep/det245

Cited by 173 publications

(117 citation statements)

References 41 publications

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“…Like cleavage stage biopsy, mosaicism can also yield misleading results when using trophectoderm biopsy for sampling. This problem is partially mitigated by the developmental stage of the embryo (some abnormal embryos may not survive 5 d in culture, Adler et al 2014) and the ability to access and analyze several trophectoderm cells (Fragouli et al 2011;Capalbo et al 2013).…”

Section: Genetic Considerations In Recurrent Pregnancy Lossmentioning

confidence: 99%

Genetic Considerations in Recurrent Pregnancy Loss

Hyde

Schust

2015

Cold Spring Harbor Perspectives in Medicine

119

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Section: Genetic Considerations In Recurrent Pregnancy Lossmentioning

confidence: 99%

Genetic Considerations in Recurrent Pregnancy Loss

Hyde

Schust

2015

Cold Spring Harbor Perspectives in Medicine

119

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“…Data report the rate of mosaicism at the cleavage stage of development to be as high as 50 % [25]. While mosaicism does persist at the trophectoderm stage, the rate of mosaicism is markedly lower, approximating 3-5 %, than that at earlier stages of development [28][29][30]. Therefore, it is possible that the cell biopsied and tested during PGS may not be representative of the ploidy status of the other cells comprising the embryo.…”

Section: Pgs: Current Statementioning

confidence: 99%

Preimplantation genetic testing for aneuploidy: what technology should you use and what are the differences?

Brezina

Anchan

Kearns

2016

J Assist Reprod Genet

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Purpose The purpose of the review was to define the various diagnostic platforms currently available to perform preimplantation genetic testing for aneuploidy and describe in a clear and balanced manner the various strengths and weaknesses of these technologies. Methods A systematic literature review was conducted. We used the terms "preimplantation genetic testing," "preimplantation genetic diagnosis," "preimplantation genetic screening, " "preimplantation genetic diagnosis for aneuploidy," "PGD," "PGS," and "PGD-A" to search through PubMed, ScienceDirect, and Google Scholar from the year 2000 to April 2016. Bibliographies of articles were also searched for relevant studies. When possible, larger randomized controlled trials were used. However, for some emerging data, only data from meeting abstracts were available. Results PGS is emerging as one of the most valuable tools to enhance pregnancy success with assisted reproductive technologies. While all of the current diagnostic platforms currently available have various advantages and disadvantages, some platforms, such as next-generation sequencing (NGS), are capable of evaluating far more data points than has been previously possible. The emerging complexity of different technologies, especially with the utilization of more sophisticated tools such as NGS, requires an understanding by clinicians in order to request the best test for their patients.. Conclusion Ultimately, the choice of which diagnostic platform is utilized should be individualized to the needs of both the clinic and the patient. Such a decision must incorporate the risk tolerance of both the patient and provider, fiscal considerations, and other factors such as the ability to counsel patients on their testing results and how these may or may not impact clinical outcomes.

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“…Studies looking into the concordance of results between the trophectoderm and the ICM have found identical results in both TE and ICM in overwhelming number of cases with full aneuploidy [60,61]. It therefore seems to make clinical sense not to transfer these embryos.…”

Section: Biological and Technical Variables Influencing Pgs Efficacymentioning

confidence: 99%

Preimplantation Genetic Screening

Sermon¹

2017

obm genet

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The main aim of PGS has always been to improve IVF outcome, especially in patient groups assumed to have higher rates of chromosomally abnormal embryos, such as patients of advanced maternal age. In that sense, PGS is quite different from other types of screening as discussed in other papers in this issue. Today it bears no doubt that blastocysts found to be uniformly aneuploid in a biopsy will fail to implant, or worse, will implant and lead to a pregnancy and birth carrying a major chromosomal abnormality, such as trisomy 21. However, it has been argued that a cohort of embryos cannot be improved, and that PGS is only a selection method for which efficiency has not been proven. PGS would never increase the live birth rate for that given cohort, even with a 100% efficiency rate of embryo cryopreservation. The current debate on whether PGS should be applied and to which patients it should be offered has shifted from the effect on live birth rates towards other outcomes such as the reduction of transfers and of miscarriages. Taking the undeniable higher cost of IVF into account when PGS is included, what is the benefit to the patient? The views on this question differ on whether PGS is an additional source of income for the IVF clinic and may or may not balance the extra cost for cryopreservation and embryo transfer for the patients, or whether society pays for IVF treatments and may decide not to want to invest in a medical act that does not improve the primary goal of IVF, i.e. having a healthy child. PGS is also often presented as diminishing patient anxiety and stress through decreasing unnecessary embryos transfers and miscarriages, although no data on this

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FISH reanalysis of inner cell mass and trophectoderm samples of previously array-CGH screened blastocysts shows high accuracy of diagnosis and no major diagnostic impact of mosaicism at the blastocyst stage

Abstract: No specific funding was sought or obtained for this study.

Cited by 173 publications

References 41 publications

Genetic Considerations in Recurrent Pregnancy Loss

Genetic Considerations in Recurrent Pregnancy Loss

Preimplantation genetic testing for aneuploidy: what technology should you use and what are the differences?

Preimplantation Genetic Screening

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