Diagnosis and clinical management of embryonic mosaicism

Sachdev, N.M.; Maxwell, Susan; Besser, Andria G.; Grifo, James A.

doi:10.1016/j.fertnstert.2016.10.006

Cited by 76 publications

(56 citation statements)

References 35 publications

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“…The few rates of mosaicism reported in the included studies are in line with previous studies, showing that mosaic embryos constitute a small but potentially significant part of the embryo cohort, with potential to produce liveborn offspring . In general, if aneuploidy screening is performed, and there are no euploid embryos available, mosaic embryos could be prioritized based on the chromosome(s) affected by aneuploidy, the type of aneuploidy and the degree of mosaicism detected, preferably according to guidelines provided by the Preimplantation Genetic Diagnosis International Society (PGDIS) and Controversies in Preconception, Preimplantation and Prenatal Diagnosis (COGEN) . In general, each center utilizing PGT‐A should develop evidence‐based guidelines for embryo prioritization to ensure standardization of the treatment and transparency to both patients and piers.…”

Section: Discussionsupporting

confidence: 76%

A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

Toft

Ingerslev

Kesmodel

et al. 2020

Acta Obstet Gynecol Scand

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Introduction:In assisted reproductive technology, aneuploidy is considered a primary cause of failed embryo implantation. This has led to the implementation of preimplantation genetic testing for aneuploidy in some clinics. The prevalence of aneuploidy and the use of aneuploidy screening during preimplantation genetic testing for inherited disorders has not previously been reviewed. Here, we systematically review the literature to investigate the prevalence of aneuploidy in blastocysts derived from patients carrying or affected by an inherited disorder, and whether screening for aneuploidy improves clinical outcomes. Material and methods:PubMed and Embase were searched for articles describing preimplantation genetic testing for monogenic disorders and/or structural rearrangements in combination with preimplantation genetic testing for aneuploidy. Original articles reporting aneuploidy rates at the blastocyst stage and/or clinical outcomes (positive human chorionic gonadotropin, gestational sacs/implantation rate, fetal heartbeat/clinical pregnancy, ongoing pregnancy, miscarriage, or live birth/delivery rate on a per transfer basis) were included. Case studies were excluded. Results:Of the 26 identified studies, none were randomized controlled trials, three were historical cohort studies with a reference group not receiving aneuploidy screening, and the remaining were case series. In weighted analysis, 34.1% of 7749 blastocysts were aneuploid. Screening for aneuploidy reduced the proportion of embryos suitable for transfer, thereby increasing the risk of experiencing a cycle without transferable embryos. In pooled analysis the percentage of embryos suitable for transfer was reduced from 57.5% to 37.2% following screening for aneuploidy. Among historical cohort studies, one reported significantly improved pregnancy and birth rates but did | 697 TOFT eT al. K E Y W O R D Saneuploidy screening, clinical outcomes, comprehensive chromosome screening, preimplantation genetic diagnosis-preimplantation screening, preimplantation genetic testing, systematic review Key messageOne-third of embryos derived from patients carrying or affected by an inherited disorder are aneuploid. Hence, prioritizing embryos by ploidy status should in theory improve clinical success rates per transfer. The design and quality of the current available data do not allow a conclusion to be drawn with respect to a clinical effect.

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Section: Discussionsupporting

confidence: 76%

A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

Toft

Ingerslev

Kesmodel

et al. 2020

Acta Obstet Gynecol Scand

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show abstract

“…The similar amount of cf-DNA in SCM from aneuploid and euploid embryos suggests that both cell types undergo apoptosis during embryo development (Vera-Rodriguez et al, 2018). In some cases, aneuploid cells are extensively eliminated from the growing embryo, leading to embryo self-correction (van Echten-Arends et al, 2011;Bazrgar et al, 2013;Taylor et al, 2014;Greco et al, 2015;Sachdev et al, 2017;Zore et al, 2019). The finding that euploid embryos and healthy live births are obtained after the transfer of mosaic embryos supports the hypothesis of genetic self-correction by the embryo (Sachdev et al, 2017;Bazrgar et al, 2013;Greco et al, 2015;Zhang et al, 2019).…”

Section: Reliability Of Non-invasive Preimplantation Genetic Testing mentioning

confidence: 58%

“…Second, embryo biopsy involves the removal of only few cells from the whole embryo, and this might lead to genetic misdiagnosis, i.e. false positive-negative, in the case of embryo mosaicism McCoy, 2017;Sachdev et al, 2017;Vera-Rodriguez and Rubio, 2017). Third, invasive procedures could be detrimental to the embryo reproductive potential.…”

Section: Introductionmentioning

confidence: 99%

Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? A systematic review

Brouillet

Martinez

Coutton

et al. 2020

Reproductive BioMedicine Online

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Spent culture medium (SCM) represents a possible source of embryonic DNA for non-invasive preimplantation genetic testing (PGT). Before considering routine clinical use, methodologies need to be improved to increase detection of embryo DNA in SCM while preventing contamination by exogenous and maternal DNA. The identification of DNA origin (in particular, maternal versus embryonic) is necessary for improved reliability of SCM-PGT. ABSTRACTPreimplantation genetic testing (PGT) is increasingly used worldwide. It currently entails the use of invasive techniques, i.e. polar body, blastomere, trophectoderm biopsy or blastocentesis, to obtain embryonic DNA, with major technical limitations and ethical issues. Evidence suggests that invasive PGT can lead to genetic misdiagnosis in the case of embryo mosaicism, and, consequently, to the selection of affected embryos for implantation or to the destruction of healthy embryos. Recently, spent culture medium (SCM) has been proposed as an alternative source of embryonic DNA. An increasing number of studies have reported the detection of cell-free DNA in SCM and highlighted the diagnostic potential of non-invasive SCM-based PGT for assessing the genetic status of preimplantation human embryos obtained by IVF. The reliability of this approach for clinical applications, however, needs to be determined. In this systematic review, published evidence on non-invasive SCM-based PGT is presented, and its current benefits and limitations compared with invasive PGT. Then, ways of optimizing and standardizing procedures for non-invasive SCM-based PGT to prevent technical biases and to improve performance in future studies are discussed. Finally, clinical perspectives of non-invasive PGT are presented and its future applications in reproductive medicine highlighted.

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“…In the meantime, it is absolutely imperative that couples considering transferring mosaic embryos be counseled about current knowledge (or lack thereof) of the possible outcomes as well as the strong recommendations for follow‐up routine prenatal diagnosis. In such cases, amniocentesis may be a more appropriate choice . Recent recommendations and guidelines are available to guide the reporting of mosaic blastocysts as well as the counseling for patients contemplating their use …”

Section: Mosaic Embryos: Transfer or Discard?mentioning

confidence: 99%

“…In such cases, amniocentesis may be a more appropriate choice. 25 Recent recommendations and guidelines are available to guide the reporting of mosaic blastocysts as well as the counseling for patients contemplating their use. 26,27 NEUROTROPIC VIRUSES…”

Section: Mosaic Embryos: Transfer or Discard?mentioning

confidence: 99%

In case you missed it: thePrenatal Diagnosiseditors bring you the most significant advances of 2016

et al. 2017

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Diagnosis and clinical management of embryonic mosaicism

Cited by 76 publications

References 35 publications

A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? A systematic review

In case you missed it: thePrenatal Diagnosiseditors bring you the most significant advances of 2016

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