Randomized comparison of next-generation sequencing and array comparative genomic hybridization for preimplantation genetic screening: a pilot study

Yang, Zhihong; Lin, James; Zhang, Junyi; Fong, Wai Ieng; Li, Pei; Zhao, Rong; Liu, Xiaohong; Podevin, William; Kuang, Yanping; Liu, Jiaen

doi:10.1186/s12920-015-0110-4

Cited by 65 publications

(45 citation statements)

References 54 publications

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“…In addition to array CGH analysis, we also explored the use of whole shotgun NGS to determine copy number as is commonly applied to embryonic cells for preimplantation genetic screening. 28,29 We aimed to obtain about 5 million NGS reads per cell. Paired-end sequencing reads were obtained for each sample.…”

Section: Single Cell Next-generation Sequencingmentioning

confidence: 99%

Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing

et al. 2016

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ObjectiveThe goal was to develop methods for detection of chromosomal and subchromosomal abnormalities in fetal cells in the mother's circulation at 10–16 weeks' gestation using analysis by array comparative genomic hybridization (CGH) and/or next‐generation sequencing (NGS).MethodNucleated cells from 30 mL of blood collected at 10–16 weeks' gestation were separated from red cells by density fractionation and then immunostained to identify cytokeratin positive and CD45 negative trophoblasts. Individual cells were picked and subjected to whole genome amplification, genotyping, and analysis by array CGH and NGS.ResultsFetal cells were recovered from most samples as documented by Y chromosome PCR, short tandem repeat analysis, array CGH, and NGS including over 30 normal male cells, one 47,XXY cell from an affected fetus, one trisomy 18 cell from an affected fetus, nine cells from a trisomy 21 case, three normal cells and one trisomy 13 cell from a case with confined placental mosaicism, and two chromosome 15 deletion cells from a case known by CVS to have a 2.7 Mb de novo deletion.ConclusionWe believe that this is the first report of using array CGH and NGS whole genome sequencing to detect chromosomal abnormalities in fetal trophoblastic cells from maternal blood. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

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Section: Single Cell Next-generation Sequencingmentioning

confidence: 99%

Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing

et al. 2016

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“…= partial chromosome gain or loss (length in Mb). when embryonic biopsies are analysed during preimplantation genetic diagnosis [Fiorentino et al, 2014;Yang et al, 2015]. We subsequently performed a validation study of our NGS-based protocol by a comparison of metaphase-CGH and NGS results from the same WGA product of the previously analysed porcine blastomeres using metaphase-CGH [Hornak et al, 2015].…”

Section: Ngs Protocolmentioning

confidence: 99%

Aneuploidy Detection and mtDNA Quantification in Bovine Embryos with Different Cleavage Onset Using a Next-Generation Sequencing-Based Protocol

Horňák

Kubicek

Brož

et al. 2016

Cytogenet Genome Res

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Bovine embryos are now routinely used in agricultural systems as a means of disseminating superior genetics worldwide, ultimately with the aim of feeding an ever-growing population. Further investigations, common for human IVF embryos, thus have priority to improve cattle IVF, as has screening for aneuploidy (abnormal chromosome number). Although the incidence and consequences of aneuploidy are well documented in human preimplantation embryos, they are less well known for the embryos of other animals. To address this, we assessed aneuploidy levels in thirty-one 2-cell bovine embryos derived from early- and late-cleaving zygotes. Contemporary approaches ( Whole Genome Amplification and next-generation sequencing) allowed aneuploidy assessment for all chromosomes in oocytes from donors aged 4-7 years. We also quantified mitochondrial DNA (mtDNA) levels in all blastomeres assessed, thereby testing the hypothesis that they are related to levels of aneuploidy. The overall incidence of aneuploidy in this cohort of bovine embryos was 41.1% and correlated significantly with the timing of cleavage (77.8% in late-cleaving vs. 31.8% in early-cleaving embryos). Moreover, based on mtDNA sequence read counts, we observed that the median mtDNA quantity is significantly lower in late-cleaving embryos. These findings further reinforce the use of the bovine system as a model for human IVF studies.

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“…Interestingly, with regard to their reason for wanting PGT‐A, significantly more patients who self‐assessed as knowing well or knowing a little about PGT‐A chose the “to give live birth” and not the “to avoid miscarriage” option. Indeed, several RCTs showed that PGT‐A improved the live birth rate and reduced miscarriage in a limited number of infertile patients with a favorable prognosis . However, in one study, PGT‐A did not improve the live birth rate or reduce the miscarriage rate in RPL patients .…”

Section: Discussionmentioning

confidence: 98%

“…However, there has been controversy regarding whether it can improve the live birth rate and prevent miscarriage in patients with RPL or aid infertile patients, although PGT‐A was originally developed in order to prevent miscarriage caused by aneuploidy at an advanced maternal age. With the progress made in scientific technologies such as array comparative genomic hybridization (aCGH), next generation sequencing (NGS) and trophectoderm biopsy, several randomized control trials (RCT) revealed that PGT‐A improved the live birth rate in limited populations with a favorable prognosis . However, several RCTs demonstrated no improvement in the live birth rate from its use .…”

Section: Introductionmentioning

confidence: 99%

Attitudes toward preimplantation genetic testing for aneuploidy among patients with recurrent pregnancy loss in Japan

Takeda

Sugiura‐Ogasawara

Ebara

et al. 2020

J of Obstet and Gynaecol

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Aim To examine attitudes toward preimplantation genetic testing for aneuploidy (PGT‐A) in patients with recurrent pregnancy loss (RPL) because it has been performed worldwide in spite of little evidence regarding whether it can improve the live birth rate and prevent miscarriage. There has been no study to examine attitudes toward PGT‐A in patients with RPL. Methods We conducted a cross‐sectional study that used a questionnaire to examine attitudes toward PGT‐A, the desire for PGT‐A and the factors associated with this desire in 386 patients with RPL between November 2014 and January 2019. Results Overall, 25.1% of patients desired PGT‐A and 35.2% answered that they knew about it. Regarding the reasons for wanting PGT‐A, 42.3% thought that it would insure a live birth and with complete case analysis, showed that the patients' wish for PGT‐A as a means of giving live birth was affected by their IVF‐ET history (adjusted odds ratio 2.7, 95% CI 1.2–7.2) and whether they had any knowledge of PGT‐A (2.4, 1.1–5.3). Those with a higher total family income (3.5, 1.2–10.1) and a previous IVF‐ET (4.6, 2.0–10.3) tended to want PGT‐A as a means of avoiding miscarriage. Conclusion The majority had no opinion or a poor knowledge of PGT‐A. More patients who self‐assessed as knowing about PGT‐A or who had undergone IVF‐ET had the above type of misunderstanding. Accurate and up‐to‐date information from facilities different from those in which PGT‐A is performed is necessary before reaching a decision on PGT‐A.

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Randomized comparison of next-generation sequencing and array comparative genomic hybridization for preimplantation genetic screening: a pilot study

Cited by 65 publications

References 54 publications

Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing

Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing

Aneuploidy Detection and mtDNA Quantification in Bovine Embryos with Different Cleavage Onset Using a Next-Generation Sequencing-Based Protocol

Attitudes toward preimplantation genetic testing for aneuploidy among patients with recurrent pregnancy loss in Japan

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