Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles

Fiorentino, Francesco; Bono, Sara; Biricik, Anıl; Nuccitelli, Andrea; Cotroneo, Ettore; Cottone, Giuliano; Kokocinski, Felix; Michel, Claude-Edouard; Minasi, Maria Giulia; Greco, Ermanno

doi:10.1093/humrep/deu277

Cited by 220 publications

(150 citation statements)

References 47 publications

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“…Preimplantation genetic screening is widely used to identify chromosomally normal (euploid) embryos and select them for intrauterine transfer in order to improve the clinical outcome of IVF. 1 Chromosomal mosaicism is a relatively common finding in IVF-derived human embryos. 2 Mosaic embryos, which are characterized by the presence of a mixture of diploid and aneuploid cell lines, are not usually transferred because they are deemed to be abnormal.…”

Section: Healthy Babies After Intrauterine Transfer Of Mosaic Aneuplomentioning

confidence: 99%

Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts

Greco

Minasi²,

Fiorentino³

2015

N Engl J Med

Self Cite

472

371

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2089 correspondence reflects improvements in patient care rather than case selection.In response to de Miguel-Yanes et al.: we did not evaluate the subgroup with diabetes in our initial analysis. However, in contrast with de MiguelYanes et al., after stratifying our sample according to the presence of diabetes we observed higher mortality for the subgroup of patients with diabetes, and this difference persisted over time.We agree with Hussain and Al-Omran that surgical volume is an important predictor of outcomes for abdominal aortic aneurysm repair. 1 In our previous work, we found that the relationship between hospital volume and outcomes was quite different for endovascular repair versus open repair and that experience with one type of repair did not carry over to improved outcomes in the other type of repair. We therefore did not conduct propensityscore matching for procedure volume in our analysis, since doing so would have been helpful only for comparisons of the same procedure, not for comparisons between different procedures.

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Section: Healthy Babies After Intrauterine Transfer Of Mosaic Aneuplomentioning

confidence: 99%

Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts

Greco

Minasi²,

Fiorentino³

2015

N Engl J Med

Self Cite

472

371

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“…An analysis made using NGS was also performed for a couple carrying a Robertsonian translocation, and the whole process of diagnosing the translocation and aneuploidy of 24 chromosomes resulted in implantation of a healthy embryo and normal pregnancy development [17]. Similar findings were observed by Fiorentino et al [33], Tan et al [34] and Treff et al who successfully used next generation sequencing to identify monogenic diseases [35].…”

Section: Next Generation Sequencing (Ngs)mentioning

confidence: 85%

Current methods for preimplantation genetic diagnosis

Liss¹,

Chromik²,

Szczyglińska³

et al. 2016

Ginekol Pol

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Preimplantation Genetic Diagnosis (PGD) used in assisted reproduction techniques is designed to provide help for couples trying to conceive a child, as it helps deliver healthy offspring. After in vitro fertilization, material is collected from the oocyte (polar body), 3-day-old embryo, or increasingly often, from the trophectoderm of a blastocyst. Selection of the diagnostic method depends on the testing center, but methods such as aCGH (Comparative Genomic Hybridization Array) and NGS (Next-Generation Sequencing) are supposed to have the highest reliability and precision. This paper presents a review of the most important methods used in PGD, their advantages and disadvantages as well as efficacy in the procedures in which they are used.

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“…These are the MiSeq from Illumina and the Personal Genome Machine (PGM) from Thermo-Fisher Scientific [37,38,[51][52][53]. Following DNA amplification, approximately 50 ng of each DNA sample is enzymatically digested into millions of fragments and pooled for library preparation.…”

Section: Next Generation Sequencingmentioning

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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Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles

Abstract: Not applicable.

Cited by 220 publications

References 47 publications

Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts

Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts

Current methods for preimplantation genetic diagnosis

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

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