PGD for monogenic disease by direct mutation analysis alone in 2 or more cells is more reliable than multiple marker analysis in single cells

Tao, Xin; Su, Jing; Pepe, Russell J.; Northrop, Lesley E.; Ferry, K.M.; Treff, Nathan R.

doi:10.1016/j.fertnstert.2011.07.090

Cited by 7 publications

(3 citation statements)

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“…We note that each method used a separate trophectoderm-cell biopsy, thus reflecting the differences of different trophectoderm cells from the sample blastocyst. Besides the lower mosaicism rate, blastocyst biopsy uses 3 to 6 cells and obtained more consistent WGA and chromosomal analysis results (24,25). Trophectoderm cells biopsy also showed better biosafety compared with cleavage-stage biopsy.…”

Section: Discussionmentioning

confidence: 91%

Validation of a next-generation sequencing–based protocol for 24-chromosome aneuploidy screening of blastocysts

Huang

Yan

Lü³

et al. 2016

Fertility and Sterility

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Section: Discussionmentioning

confidence: 91%

Validation of a next-generation sequencing–based protocol for 24-chromosome aneuploidy screening of blastocysts

Huang

Yan

Lü³

et al. 2016

Fertility and Sterility

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“…Contrary to cleavage stage biopsy, trophectoderm biopsies contain multiple cells and therefore an increased number of copies of DNA material in the biopsy specimen. This provides greater fidelity and may reduce the non-result rate [ 54 – 56 ]. Consequently, a lower rate for mosaicism is expected with the approach of trophectoderm biopsy [ 50 ].…”

Section: Discussionmentioning

confidence: 99%

Clinical reassessment of human embryo ploidy status between cleavage and blastocyst stage by Next Generation Sequencing

et al. 2018

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One of the most important limitations of genetic testing in preimplantation embryos is embryonic mosaicism, especially when performed on D3 with only a single blastomere evaluated. Previous publications, using Array-Comparative Genomic Hybridization (a-CGH) to compare day 3 (D3) biopsies versus trophectoderm biopsies for the analysis of aneuploid embryos, showed similar high concordance rates per embryo diagnosis for D3 biopsies and trophectoderm biopsies. Next generation sequencing (NGS) was introduced lately as a new technique for preimplantation genetic testing for aneuploidies (PGT-A). Using this technique, this retrospective descriptive study evaluated the degree of the concordance of the diagnosis between preimplantation human cleavage stage (D3) and blastocyst stage (D5) embryos. Double biopsies on D3 and D5 were performed on 118 embryos, reaching blastocyst stage on D5 and had not been selected for transfer. As the fertilization law of the United Arab Emirates does not allow embryo freezing, also surplus euploid embryos after D 3 biopsy were included.Analysis of the NGS results from D3 and D5 embryo biopsies showed a total concordance rate per embryo diagnosis of 85.6% for euploid and aneuploid embryos. The concordance rates per embryo chromosomal pattern for embryo diagnosed as aneuploid at both biopsy stages was 82.2%. However, the status regarding the affected chromosomes was not identical on D3 and D5. Hence, the total concordance rate between D3 biopsy and D5 biopsy was limited to 67.8%.This current study clearly demonstrated that the concordance rates between D3 and D5 biopsies in aneuploid and euploid embryos are lower than previously reported.

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“…Finally, a high proportion of embryo biopsies returns an inconclusive result (approximately one in six). This limits the capacity for PGD to diagnose single gene defects, success of which depends on the nature of the genetic disorder, the linked markers, and assays available 21,22 .…”

Section: Pre-implantation Genetic Diagnosismentioning

confidence: 99%

Pre-implantation genetic screening and diagnosis: what doctors should know

Maia

Moura

Kane

2015

Rev. Bras. Ginecol. Obstet.

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PGD for monogenic disease by direct mutation analysis alone in 2 or more cells is more reliable than multiple marker analysis in single cells

Cited by 7 publications

References 0 publications

Validation of a next-generation sequencing–based protocol for 24-chromosome aneuploidy screening of blastocysts

Validation of a next-generation sequencing–based protocol for 24-chromosome aneuploidy screening of blastocysts

Clinical reassessment of human embryo ploidy status between cleavage and blastocyst stage by Next Generation Sequencing

Pre-implantation genetic screening and diagnosis: what doctors should know

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