4.7 Article

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Obstetrics & Gynecology

Non-invasive PGT-A: An update

Luis Navarro-Sánchez et al.

REPRODUCTIVE BIOMEDICINE ONLINE (2022)

Article Developmental Biology

Application of cell free DNA in ART

Amin Alizadegan et al.

Summary: Various biopsy and sampling methods are used for preimplantation genetic diagnosis of embryos. These invasive procedures have adverse effects on embryo development and are expensive. Therefore, non-invasive methods, such as cell free DNA (cfDNA) evaluation, have been proposed. cfDNA can be found in body fluids, such as blood, follicular fluid, amniotic fluid, spent embryo culture medium, and blastocoel fluid. This review highlights the potential of cfDNA as a supplemental tool for improving IVF and pregnancy outcomes, as well as female infertility management. However, successful application of cfDNA requires understanding of its biological properties, collection time, detection methods with high sensitivity and specificity, as well as limitations and challenges in clinical settings.

PLACENTA (2022)

Article Obstetrics & Gynecology

Non-invasive embryo selection strategy for clinical IVF to avoid wastage of potentially competent embryos

Li Chen et al.

Summary: A non-invasive embryo grading system guided by machine learning was developed to predict blastocyst ploidy. The study found that A and B-grade embryos had better clinical outcomes, and the machine learning strategy had higher embryo utilization rates compared to traditional methods.

REPRODUCTIVE BIOMEDICINE ONLINE (2022)

Review Genetics & Heredity

Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data

Diego Marin et al.

Summary: Preimplantation genetic testing for aneuploidy (PGT-A) has advanced in reducing miscarriage risk, increasing success rates of IVF, and shortening time to pregnancy. However, PGT-A methods utilizing NGS show significantly lower concordance, indicating caution is needed when considering new iterations of PGT-A.

PRENATAL DIAGNOSIS (2021)

Article Obstetrics & Gynecology

Consistent results of non-invasive PGT-A of human embryos using two different techniques for chromosomal analysis

Belen Lledo et al.

Summary: This study evaluated the consistency of different chromosomal analysis techniques for niPGT-A, finding that the diagnostic concordance between PGT-A and niPGT-A appears independent of the technique used. Higher mosaicism rates were observed in SCM, and optimizing culture conditions and medium retrieval can potentially improve the reliability of niPGT-A.

REPRODUCTIVE BIOMEDICINE ONLINE (2021)

Article Obstetrics & Gynecology

Is there still a rationale for non-invasive PGT-A by analysis of cell-free DNA released by human embryos into culture medium?

Raoul Orvieto et al.

Summary: Human embryos have the ability to self-correct by eliminating abnormal cells and potentially contributing to cell-free DNA in culture media. Chromosomal diagnosis at the blastocyst stage may be rendered useless due to the high rate of false-positive diagnoses, leading to the disposal of embryos with normal pregnancy potential. Further research and consideration are needed before adopting unvalidated PGT-A as a routine IVF adjunct.

HUMAN REPRODUCTION (2021)

Article Biochemistry & Molecular Biology

NGS-Based Application for Routine Non-Invasive Pre-Implantation Genetic Assessment in IVF

Katalin Gombos et al.

Summary: The study presents a comprehensive workflow for clinically applicable strategy for NIPGT-A based on NGS technology, applied to detect chromosomal abnormalities in embryos; through wet- and dry-lab procedures, it can be completed within 48 hours, which is crucial for same-cycle blastocyst transfer.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Endocrinology & Metabolism

An artificial intelligence model (euploid prediction algorithm) can predict embryo ploidy status based on time-lapse data

Bo Huang et al.

Summary: This study investigates the relationship between time-lapse technology and embryo ploidy status, proposing an AI model named EPA to predict embryo ploidy based on TLT data. The model showed good prediction accuracy on testing datasets, opening up possibilities for non-invasive embryo selection in in vitro fertilization.

REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY (2021)

Article Multidisciplinary Sciences

Cell-free DNA in spent culture medium effectively reflects the chromosomal status of embryos following culturing beyond implantation compared to trophectoderm biopsy

Akihiro Shitara et al.

Summary: The study found that niPGT-A may be more accurate than PGT-A in terms of ploidy diagnostic accuracy in outgrowths.

PLOS ONE (2021)

Article Endocrinology & Metabolism

Validation of preimplantation genetic tests for aneuploidy (PGT-A) with DNA from spent culture media (SCM): concordance assessment and implication

Baoli Yin et al.

Summary: Using spent culture medium (SCM) as a source of DNA for preimplantation genetic testing aneuploidy (PGT-A) has been widely discussed. However, our study found that DNA in SCM samples had lower quality and quantity compared to TE samples, leading to lower interpretability and full chromosomal concordance rates. TE still remains a more accurate and reliable high-throughput methodology for PGT-A.

REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY (2021)

Editorial Material Obstetrics & Gynecology

Noninvasive preimplantation genetic testing for aneuploidy: Is the glass half-empty or half-full?

Carmen Rubio et al.

FERTILITY AND STERILITY (2021)

Article Cell Biology

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

Li Chen et al.

Summary: The study validated the effectiveness of NICS testing in human embryos, which is comparable to PGT-TE and can be used to select embryos with normal ploidy for implantation. The scoring system provided by NICS allows for prioritization of embryos, and the addition of TE testing as a secondary validation significantly improves accuracy.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

Article Obstetrics & Gynecology

Preimplantation Genetic Testing for Aneuploidy: Current Perspectives

Ariadne L'Heveder et al.

Summary: PGT-A aims to improve the success rates of ART by selecting euploid embryos, showing promise particularly for women with advanced maternal age, recurrent miscarriage, and implantation failure. Though concerns exist regarding potential harm to embryos and increased costs, the introduction of new noninvasive techniques and high-throughput methods is addressing these issues.

SEMINARS IN REPRODUCTIVE MEDICINE (2021)

Article Obstetrics & Gynecology

Multicenter prospective study of concordance between embryonic cell-free DNA and trophectoderm biopsies from 1301 human blastocysts

Carmen Rubio et al.

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2020)

Article Multidisciplinary Sciences

Autophagy-mediated apoptosis eliminates aneuploid cells in a mouse model of chromosome mosaicism

Shruti Singla et al.

NATURE COMMUNICATIONS (2020)

Article Endocrinology & Metabolism

Do human embryos have the ability of self-correction?

Raoul Orvieto et al.

REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY (2020)

Article Obstetrics & Gynecology

Good practice recommendations for the use of time-lapse technology

Susanna Apter et al.

HUMAN REPRODUCTION OPEN (2020)

Article Obstetrics & Gynecology

Sequencing shorter cfDNA fragments improves the fetal DNA fraction in noninvasive prenatal testing

Longwei Qiao et al.

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2019)

Article Obstetrics & Gynecology

Minimally invasive preimplantation genetic testing using blastocyst culture medium

Jiao Jiao et al.

HUMAN REPRODUCTION (2019)

Article Multidisciplinary Sciences

Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy

Lei Huang et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)

Article Endocrinology & Metabolism

Developmental potential of surplus morulas with delayed and/or incomplete compaction after freezing-thawing procedures

Ni-Chin Tsai et al.

REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY (2019)

Article Obstetrics & Gynecology

Pushing the limits of detection: investigation of cell-free DNA for aneuploidy screening in embryos

Jacqueline R. Ho et al.

FERTILITY AND STERILITY (2018)

Review Obstetrics & Gynecology

Developmental plasticity and its relevance to assisted human reproduction

Tessa J. Roseboom

HUMAN REPRODUCTION (2018)

Article Multidisciplinary Sciences

Evaluation of a novel non-invasive preimplantation genetic screening approach

Valeriy Kuznyetsov et al.

PLOS ONE (2018)

Review Obstetrics & Gynecology

Can time-lapse parameters predict embryo ploidy? A systematic review

Arnaud Reignier et al.

REPRODUCTIVE BIOMEDICINE ONLINE (2018)

Article Obstetrics & Gynecology

Will noninvasive methods surpass invasive for assessing gametes and embryos?

Tim Sanchez et al.

FERTILITY AND STERILITY (2017)

Review Obstetrics & Gynecology

Assessing the true incidence of mosaicism in preimplantation embryos

Maria Vera-Rodriguez et al.

FERTILITY AND STERILITY (2017)

Article Obstetrics & Gynecology

Characterizing nuclear and mitochondrial DNA in spent embryo culture media: genetic contamination identified

Elizabeth R. Hammond et al.

FERTILITY AND STERILITY (2017)

Article Genetics & Heredity

Molecular analysis of DNA in blastocoele fluid using next-generation sequencing

Yixin Zhang et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2016)

Article Multidisciplinary Sciences

Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization

Juanjuan Xu et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)

Review Obstetrics & Gynecology

Diagnosis of human preimplantation embryo viability

David K. Gardner et al.

HUMAN REPRODUCTION UPDATE (2015)

Article Obstetrics & Gynecology

Increasing the probability of selecting chromosomally normal embryos by time-lapse morphokinetics analysis

Natalia Basile et al.

FERTILITY AND STERILITY (2014)

Article Genetics & Heredity

The use of morphokinetic parameters to select all embryos with full capacity to implant

Sandrine Chamayou et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2013)

Review Biochemistry & Molecular Biology

Quality control of embryo development

Anna Ajduk et al.

MOLECULAR ASPECTS OF MEDICINE (2013)

Article Obstetrics & Gynecology

Modelling a risk classification of aneuploidy in human embryos using non-invasive morphokinetics

Alison Campbell et al.

REPRODUCTIVE BIOMEDICINE ONLINE (2013)

Article Obstetrics & Gynecology

Genomic DNA in human blastocoele fluid

S. Palini et al.

REPRODUCTIVE BIOMEDICINE ONLINE (2013)

Article Obstetrics & Gynecology

Limited implantation success of direct-cleaved human zygotes: a time-lapse study

Irene Rubio et al.

FERTILITY AND STERILITY (2012)

Article Obstetrics & Gynecology

The use of morphokinetics as a predictor of embryo implantation

Marcos Meseguer et al.

HUMAN REPRODUCTION (2011)

Letter Obstetrics & Gynecology

Twin live births following transfer using eight-cell cleavage stage embryos on Day 4 with developmental arrest

Hsin-Yi Wu et al.

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY (2011)