RETIRED: Technical Update: Preimplantation Genetic Diagnosis and Screening

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.

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

“…With the reported rate of chromosomal mosaicism in embryos at the cleavage stage as high as 50 % or greater, there is a chance that any cells biopsied from the embryo may not be reflective of the true chromosomal status of the fetus [12,26]. This means that regardless of the technological accuracy of PGS as a technique, its ability to predict the ultimate chromosomal status of the fetal pole is limited [2,3].…”

Section: Pgs Assumptionsmentioning

confidence: 99%

“…It is estimated, based upon a systematic review of mosaicism in studies using array CGH (aCGH) or quantitative real-time PCR (qPCR), that at least 40 to 60 % of human embryos are abnormal, increasing to 80 % in women 40 years or older [2]. Such abnormalities result in low implantation rates in women undergoing IVF procedures ranging from 30 % success in women <35 years to less than 10 % in women >40 years [3]. Various methods for identification of the chromosome complement of an embryo prior to transfer have been developed in the past decades, collectively referred to as pre-implantation genetic screening (PGS) and diagnosis (PGD).…”

Section: Introductionmentioning

confidence: 99%

Human embryo mosaicism: did we drop the ball on chromosomal testing?

Esfandiari

Bunnell

Casper

2016

“…In general, data generated from PGS trials 5-10 years ago are markedly different than those from PGS trials performed in more recent years [5]. These differences are most likely due to the dramatic improvements in the application of PGS over time and the ability to test blastocysts [2].…”

Section: Pgs Was Introduced Tomentioning

confidence: 96%

“…Spontaneous miscarriages in human pregnancies are documented to be highly associated with chromosomal aneuploidy [2,4,5]. Aneuploidy is the most common cause of reproductive failure throughout nature [4,6].…”

Section: Introduction (200)mentioning

confidence: 99%

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

Brezina

Anchan

Kearns

2016

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.