A Non-invasive Chromosome Screening Strategy for Prioritizing in vitro Fertilization Embryos for Implantation

Chen, Li; Sun, Qin; Xu, Jingtao; Fu, Haiyan; Liu, Yuxiu; Yao, Yingshui; Lü, Sijia; Yao, Bing

doi:10.3389/fcell.2021.708322

Cited by 19 publications

(19 citation statements)

References 46 publications

(65 reference statements)

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“…Our results suggest that niPGT-A is a good rule-in assay for identifying normal chromosomal embryos for transfer and might serve as a non-invasive approach prior to invasive TE PGT-A for prioritizing embryos for transfer ( Figure 2 ). With further clinical studies and validations, niPGT-A might provide a safer alternative in embryo screening to improve the clinical outcomes of assisted reproductive technology (ART) [ 61 ]. In this study, the embryo transfer strategy was based on a blastocyst morphology evaluation performed in our routine practice.…”

Section: Discussionmentioning

confidence: 99%

Validation of Non-Invasive Preimplantation Genetic Screening Using a Routine IVF Laboratory Workflow

Tsai

Chang

et al. 2022

Biomedicines

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Embryo selection is needed to optimize the chances of pregnancy in assisted reproduction technology. This study aimed to validate non-invasive preimplantation genetic testing for aneuploidy (niPGT-A) using a routine IVF laboratory workflow. Can niPGT-A combined with time-lapse morphokinetics provide a better embryo-selection strategy? A total of 118 spent culture mediums (SCMs) from 32 couples were collected. A total of 40 SCMs and 40 corresponding trophectoderm (TE) biopsy samples (n = 29) or arrested embryos (n = 11) were assessed for concordance. All embryos were cultured to the blastocyst stage (day 5 or 6) in a single-embryo culture time-lapse incubator. The modified multiple annealing and looping-based amplification cycle (MALBAC) single-cell whole genome amplification method was used to amplify cell-free DNA (cfDNA) from the SCM, which was then sequenced on the Illumina MiSeq system. The majority of insemination methods were conventional IVF. Low cfDNA concentrations were noted in this study. The amplification niPGT-A and conventional PGT-A was 67.7%. Based on this study, performing niPGT-A without altering the daily laboratory procedures cannot provide a precise diagnosis. However, niPGT-A can be applied in clinical IVF, enabling the addition of blastocysts with a better prediction of euploidy for transfer.

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Section: Discussionmentioning

confidence: 99%

Validation of Non-Invasive Preimplantation Genetic Screening Using a Routine IVF Laboratory Workflow

Tsai

Chang

et al. 2022

Biomedicines

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“…When comparing the ploidy consistency of cfDNA in SCM, all studies have reported a high success rate of cfDNA amplification and detection, ranging from 77.3% to 100% (as shown in Figure 1). However, its consistency to the conventional PGT-A results fluctuated widely, ranging from 33% to 100% [23,26,27,39] (as shown in Figure 2). Hence, it is critical to recognise the factors influencing accuracy.…”

Section: Factors Affecting the Accuracy Of Non-invasive Pgt-amentioning

confidence: 91%

“…Considering the speciality of cfDNA presented in SCM, it seems insufficient to define consistency purely based on the perfect match of the CNV patterns. Chen et al [27] proposed the embryos can be categorized or scored by the obtained niPGT-A results into three groups: (A) chromosomal normal, (B) chromosomal abnormal, and (C) multiple abnormal chromosomes or uncertain. The results showed group A predicts a normal embryo with 90.0% probability, while groups B and C predict 27.8% and 72.2% normal probability, respectively.…”

Section: The Determination For Concordancementioning

confidence: 99%

Non-Invasive Chromosome Screening for Embryo Preimplantation Using Cell-Free DNA

Huang¹,

Yao²,

Zhou³

et al. 2021

Infertility and Assisted Reproduction

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Preimplantation genetic testing (PGT) is widely adopted to select embryos with normal ploidy but requires invasive embryo biopsy procedures. Therefore, non-invasive PGT (niPGT) detection of cell-free DNA (cfDNA) in blastocyst culture medium has gradually become a hot area in the field of assisted reproduction. This chapter will systematically summarize how researchers use embryonic cfDNA to conduct niPGT detection worldwide. It will also thoroughly review the factors that affect the accuracy of the test and its underlying issues, as well as prospective applications. We hope to provide a useful reference for the standardized operation of non-invasive PGT that can be widely applied in clinical practice.

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“…Stigliani et al [9] . was the first to observe genome DNA contents in embryo culture medium, since then, multiple studies have been published of using culture medium or blastocoelic fluid for detection of chromosomal ploidy [10–13] . The current research focuses on the aneuploidy consistency between cell-free DNA (cfDNA) and embryos.…”

Section: Introductionmentioning

confidence: 99%

“…Therefore, there is no doubt that an effective non-invasive chromosome screening approach is highly demanded to prioritize embryo for transfer in the clinical practice of IVF-eSET. Stigliani et al [9] was the first to observe genome DNA contents in embryo culture medium, since then, multiple studies have been published of using culture medium or blastocoelic fluid for detection of chromosomal ploidy [10][11][12][13] . The current research focuses on the aneuploidy consistency between cell-free DNA (cfDNA) and embryos.…”

Section: Introductionmentioning

confidence: 99%

Non-invasive chromosome screening for embryo preimplantation using cell-free DNA

Yao²,

Wang³

et al. 2022

Reproductive and Developmental Medicine

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Preimplantation genetic testing (PGT) is a widely adopted screening method that can be performed to identify and select embryos with normal ploidy; however, PGT relies on embryo biopsy, that is, polar body, embryo cells, or trophectoderm biopsy, to obtain embryonic DNA, increase its technical limitations. Studies have indicated that biopsy may have an influence on the quality and development of embryos, and increase the chance of abnormal epigenetic modifications. Therefore, non-invasive PGT (niPGT) detection of cell-free DNA (cfDNA) has gradually become a hot research topic in the field of assisted reproduction. Studies showed cfDNA could be detected in blastocyst fluid and spent culture medium (SCM) in vitro cultured embryos. The cfDNA collection requires less skill and makes lower risk to embryos. Some studies have been conducted to evaluate the feasibility of SCM-based niPGT approaches. When comparing the ploidy consistency of cfDNA in SCM, its consistency to the conventional PGT for aneuploidies results fluctuated widely, it is critical to recognize the factors influencing accuracy. These contradictory results may be related to factors such as the difference in SCM sampling methods and sampling time, and the definition of consistency. In this review, we aimed to comprehensively summarize how researchers use embryonic cfDNA to conduct niPGT detection. It also systematically reviews the factors affecting the accuracy of the test and its underlying issues, as well as prospective applications. We hope to provide a basis for future niPGT research and a useful reference for the standardized operation of niPGT that can be widely applied in clinical practice.

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A Non-invasive Chromosome Screening Strategy for Prioritizing in vitro Fertilization Embryos for Implantation

Cited by 19 publications

References 46 publications

Validation of Non-Invasive Preimplantation Genetic Screening Using a Routine IVF Laboratory Workflow

Validation of Non-Invasive Preimplantation Genetic Screening Using a Routine IVF Laboratory Workflow

Non-Invasive Chromosome Screening for Embryo Preimplantation Using Cell-Free DNA

Non-invasive chromosome screening for embryo preimplantation using cell-free DNA

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