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

Abstract

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.

Recurrent pregnancy loss: current perspectives

“…It is worth noting that PGS can also be performed on a polar body biopsy, thus avoiding the need for extended in vitro embryo culture and eliminating the problem of mosaicism and the potential detrimental effect of the embryo biopsy. It also leaves more time to complete the chromosome studies 158,159. Its main pitfall is that it tests only maternal aneuploidies, but this drawback is lessened by the fact that >90% of aneuploidies at birth are of maternal origin 158,159.…”

“…However, experience in extended embryo culture and biopsy is required, as well as a good genetic platform, and an efficient vitrification program. The choice between the different platforms should take into account the clinical background, the couple’s needs, the cost, and the availability and expertise of the laboratories performing the IVF cycle and the genetic screening 158,159…”

“…However, it remains to be seen whether that is the case for couples with URPL. Many trials are currently under way in order to select the patient population most likely to benefit from PGS 158,159,165…”

Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm

“…Current leading CCS technologies include array comparative genomic hybridization (aCGH), single nucleotide polymorphism (SNP) microarray, quantitative real-time polymerase chain reaction (qPCR), and next-generation sequencing (NGS) [97]. aCGH and SNP microarray approaches depend on whole genome amplification (WGA) of DNA extracted from embryo biopsies, followed by hybridization of the DNA to thousands of genome-wide probes.…”

Assessment of pre‐implantation genetic testing for embryo aneuploidies: A SWOT analysis

“…aCGH can detect aneuploidies and also unbalanced translocations, partial aneuploidies and mosaicisms but cannot identify uniparental disomies and polyploidies . SNP array can detect unbalanced translocations, partial aneuploidies, uniparental disomies but can identify mosaicisms only if an adequate number of TE cells are analyzed . On the other hand, qPCR does not use WGA, can identify aneuploidies in a rapid fashion but has lower genomic coverage, is not able to distinguish small deletions and duplications and cannot detect structural chromosome aberrations or mosaicisms .…”