Validation of Next-Generation Sequencer for 24-Chromosome Aneuploidy Screening in Human Embryos

Sachdeva, Kabir; Discutido, Richard; Albuz, F. K.; Almekosh, Rawan; Peramo, Braulio

doi:10.1089/gtmb.2017.0108

Cited by 12 publications

(9 citation statements)

References 21 publications

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“…They found that NGS specificity and sensitivity were both 100% and that there was more than 99% concordance between NGS and aCGH. These results were also confirmed by Zheng et al [30] using VeriSeq PGS kit (Illumina) with a smallest detection size of 1.8MB and Sachdeva et al [31] using Ion torrent Personal Genome Machine NGS. After the validation of NGS, its clinical applications in PGS cycles were also evaluated.…”

Section: Aneuploidysupporting

confidence: 64%

The Progress of Next Generation Sequencing in Preimplantation Genetic Testing

Brunet¹,

Toorabally²,

Wu³

et al. 2018

Arch Clin Biomed Res

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Preimplantation genetic testing (PGT), the determination of an embryo's constituency before implantation, is becoming more and more common in clinic and there has been a gradual shift in technology towards next generation sequencing (NGS). Numerous biopsy samples such as a blastomere of cleavage stage embryo, trophectoderm of blastocyst and polar bodies as well as non-invasive or low-invasive samples such as blastocoele fluid and embryo's culture medium can be analyzed with different NGS platforms namely Roche, Illumina and Ion torrent. NGS technology has been validated and is now clinically applied to detect aneuploidies, partial or segmental aneuploidies, chromosomal aberrations including imbalanced translocations, inversion, deletion, duplication insertion and mosaicism, triploidy and single gene disorder which are often responsible for infertility and can be associated with spontaneous abortions and fetal malformations or diseases. Comprehensive chromosomal screening for all 24 chromosomes together with single gene disorder detection can be achieved at the same time in a single run using NGS and the analysis of multiple samples with different indication can be done on a single chip. NGS has the ability to detect numerical, structural and genetic abnormalities at a low cost with high efficiency and accuracy.

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Section: Aneuploidysupporting

confidence: 64%

The Progress of Next Generation Sequencing in Preimplantation Genetic Testing

Brunet¹,

Toorabally²,

Wu³

et al. 2018

Arch Clin Biomed Res

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“…However, in this study, only the good quality blastocysts were collected for TE biopsy and PGT-A, suggesting that the effect of embryo quality on euploid probability might be minimized. Notably, this study using hr-NGS for PGT-A differed from previous data using array comparative genomic hybridization analyses, which might be another reason for the different outcomes [ 33 ].…”

Section: Discussionmentioning

confidence: 73%

Effect of Interval between Human Chorionic Gonadotropin Priming and Ovum Pick-up on the Euploid Probabilities of Blastocyst

Lee

Chen²,

Huang³

et al. 2020

JCM

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This retrospective study attempts to elucidate the relevance of the interval between human chorionic gonadotropin priming and oocyte pick-up (hCG-OPU) to the euploidy probability of biopsied blastocysts in preimplantation genetic tests for aneuploidy (PGT-A) cycles. A total of 1889 blastocysts from 511 patients undergoing PGT- A cycles were used. An analysis of generalized estimating equations (GEE) was used to identify whether the hCG–OPU interval is associated with euploidy probabilities of blastocysts. Accordingly, maternal age (OR: 0.925, 95% CI: 0.903–0.948, p < 0.001) and the hCG–OPU interval (OR: 1.138, 95% CI: 1.028–1.260, p = 0.013) were the two significant factors associated with the euploidy probabilities. The Cochran-Armitage trend test demonstrated that the blastocyst euploidy percentage increased progressively with the increasing hCG-OPU interval in normal responders (p = 0.006) and advanced maternal age (age ≥38 years; p = 0.020) groups. In normal responders, the euploidy rate was highest in the 38–39 h interval (43.1%, 47/109). In contrast, the euploidy rate was lowest in the 34–35 h interval (28.7%, 29/105). In conclusion, the present study demonstrated that at an hCG-OPU interval between 34–39 h, the longer the hCG-OPU interval, the higher the probability of euploidy for blastocysts.

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“…By comparing the embryos obtained with previously established arrayCGH methodology, they confirmed that NGS has a 100% aneuploidy diagnosis consistency with arrayCGH. In addition to aneuploidy screening, Sachdeva et al reported the ability of NGS to detect segmental changes (as small as 14 Mb in size) [20], suggesting it could also be applied in the diagnosis of partial aneuploidy. Furthermore, by comparing NGS results with two other independent methodologies, namely qPCR-based comprehensive chromosome screening and Taqman allelic discrimination assays, Treff et al validated the use of NGS in PGD treatment for patients with monogenic disease [21].…”

Section: Discussionmentioning

confidence: 99%

Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array

Niu

Wang

et al. 2020

BMC Pregnancy Childbirth

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Background: To assess whether preimplantation genetic testing for aneuploidy with next generation sequencing (NGS) outweighs single nucleotide polymorphism (SNP) array in improving clinical outcomes. Methods: A retrospective analysis of the clinical outcomes of patients who underwent PGT-A treatment in a single center from January 2013 to December 2017.A total of 1418 couples who underwent PGT-A treatment were enrolled, of which 805 couples used NGS for PGT-A, while the remaining 613 couples used SNP array for PGT-A. Clinical pregnancy rate, miscarriage rate and healthy baby rate were compared between the MALBAC-NGS-PGT-A and MDA-SNP-PGT-A groups. Results: After testing karyotypes of 5771 biopsied blastocysts, 32.2% (1861/5771) were identified as chromosomally normal, while 67.8% were chromosomally abnormal. In terms of clinical outcomes, women in the MALBAC-NGS-PGT-A group had a significantly higher clinical pregnancy rate (50.5% vs 41.7%, p = 0.002) and healthy baby rate (39.6% vs 31.4%, p = 0.003), and a lower miscarriage rate (15.5% vs 22.8%, p = 0.036). Conclusion: This is the largest study reporting the extensive application of NGS-based PGT-A, whilst comparing the clinical outcomes of MALBAC-NGS-PGT-A and MDA-SNP-PGT-A. The results provide greater evidence supporting the wider use of NGS in PGT-A, not only for its lower cost but also for its improved clinical outcomes compared to SNP-based PGT-A.

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Validation of Next-Generation Sequencer for 24-Chromosome Aneuploidy Screening in Human Embryos

Cited by 12 publications

References 21 publications

The Progress of Next Generation Sequencing in Preimplantation Genetic Testing

The Progress of Next Generation Sequencing in Preimplantation Genetic Testing

Effect of Interval between Human Chorionic Gonadotropin Priming and Ovum Pick-up on the Euploid Probabilities of Blastocyst

Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array

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