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

Lledó, Belén; Morales, Ruth; Ortíz, José Antonio; Rodríguez-Arnedo, Adoración; Ten, Jorge; Castillo, Juan Carlos; Bernabéu, A; Llácer, J.; Bernabéu, Rafael

doi:10.1016/j.rbmo.2020.10.021

Cited by 21 publications

(10 citation statements)

References 30 publications

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“…TE biopsy was typically chosen as the reference sample to which to compare SBM. In these cases, the informativity rate of SBM and the ploidy concordance rate varied, ranging from 69.0% to 97.6% and from 33.3% to 89.1%, respectively (Vera-Rodriguez et al, 2018;Ho et al, 2018;Huang et al, 2019;Yeung et al, 2019;Rubio et al, 2019;Lledo et al, 2020;Shitara et al, 2021;Chen et al, 2021a) (Table 1). Only one study compared SBM to PB biopsy and obtained an 81.8% informativity rate of SBM and a 72.2% ploidy concordance rate -22.2% full and 50.0% partial- (Feichtinger et al, 2017) (Table 1).…”

Section: Embryonic Cfdna Analysis For Nipgt-a: Concordance Studiesmentioning

confidence: 99%

“…Embryos in culture release small amounts of cfDNA to the media. In most studies involving non-invasive testing protocols, AH was performed to increase the release of DNA and assure enough embryonic cfDNA in the sample (Shamonki et al, 2016;Feichtinger et al, 2017;Ho et al, 2018;Huang et al, 2019;Jiao et al, 2019;Yeung et al, 2019;Lledo et al, 2020;Kuznyetsov et al, 2020). The benefit of such procedure has not been confirmed (Ho et al, 2018).…”

Section: ) Is Assisted Hatching (Ah) or Previous Vitrification Needed?mentioning

confidence: 99%

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Non-invasive preimplantation genetic testing for aneuploidies: an update

Navarro-Sánchez

García-Pascual

Rubio

et al. 2022

Reproductive BioMedicine Online

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Aneuploidy is common among preimplantation human embryos used in assisted reproductive technology. Because abnormal chromosome number can negatively affect reproductive outcome, in vitro-fertilized embryos routinely undergo aneuploidy testing before transfer into the uterus. This testing typically involves an invasive trophectoderm biopsy of a blastocyst-stage embryo. However, emerging evidence indicates that, during in vitro development, embryos secrete cell-free DNA into their culture medium; this phenomenon suggests the potential for an alternative, noninvasive assay for aneuploidy. Embryonic cell-free DNA-based assays exhibit high concordance with trophectoderm biopsies, inner cell mass and the whole blastocyst. Yet, informativity and concordance rates may be influenced by several factors: culture day when medium is collected, contamination with external and/or cumulus cell DNA, and previous manipulation of the embryos. In this review, we discuss non-invasive embryonic cell-free DNA analysis as a biomarker to prioritize blastocysts for transfer to help increase implantation rates and reduce miscarriage rates and time to achieve pregnancy. We also discuss ongoing research on the mechanisms underlying embryonic cell-free DNA secretion and how this impacts its role as a biomarker of aneuploidy.

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Section: Embryonic Cfdna Analysis For Nipgt-a: Concordance Studiesmentioning

confidence: 99%

Section: ) Is Assisted Hatching (Ah) or Previous Vitrification Needed?mentioning

confidence: 99%

Non-invasive preimplantation genetic testing for aneuploidies: an update

Navarro-Sánchez

García-Pascual

Rubio

et al. 2022

Reproductive BioMedicine Online

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“…The obvious advantage of these methods is the non-invasiveness or minimal invasiveness of the technique. Other advantages include cost efficiency, time efficiency, and a lesser need for extensively trained staff [ 11 , 13 ].…”

Section: Preimplantation Genetic Testingmentioning

confidence: 99%

“…The invasive biopsy of TE improves embryo selection, implantation and pregnancy rates, and the number of live births [ 10 ]. It also requires a team of highly trained embryologists, since the procedure is very complex and invasive [ 11 ]. Because the method of genetic testing varies, the procedure is not standardized and the results between different centers vary substantially.…”

Section: Introductionmentioning

confidence: 99%

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Non-Invasive Preimplantation Genetic Testing for Aneuploidy and the Mystery of Genetic Material: A Review Article

Tomic

Bokal

Štimpfel

2022

IJMS

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This review focuses on recent findings in the preimplantation genetic testing (PGT) of embryos. Different preimplantation genetic tests are presented along with different genetic materials and their analysis. Original material concerning preimplantation genetic testing for aneuploidy (PGT-A) was sourced by searching the PubMed and ScienceDirect databases in October and November 2021. The searches comprised keywords such as ‘preimplantation’, ‘cfDNA’; ‘miRNA’, ‘PGT-A’, ‘niPGT-A’, ‘aneuploidy’, ‘mosaicism’, ‘blastocyst biopsy’, ‘blastocentesis’, ‘blastocoel fluid’, ‘NGS’, ‘FISH’, and ‘aCGH’. Non-invasive PGT-A (niPGT-A) is a novel approach to the genetic analysis of embryos. The premise is that the genetic material in the spent embryo culture media (SECM) corresponds to the genetic material in the embryo cells. The limitations of niPGT-A are a lower quantity and lesser quality of the cell-free genetic material, and its unknown origin. The concordance rate varies when compared to invasive PGT-A. Some authors have also hypothesized that mosaicism and aneuploid cells are preferentially excluded from the embryo during early development. Cell-free genetic material is readily available in the spent embryo culture media, which provides an easier, more economic, and safer extraction of genetic material for analysis. The sampling of the SECM and DNA extraction and amplification must be optimized. The origin of the cell-free media, the percentage of apoptotic events, and the levels of DNA contamination are currently unknown; these topics need to be further investigated.

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Preimplantation Genetic Testing

Singh,

D’Souza

2023

Genetic Testing in Reproductive Medicine

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

Cited by 21 publications

References 30 publications

Non-invasive preimplantation genetic testing for aneuploidies: an update

Non-invasive preimplantation genetic testing for aneuploidies: an update

Non-Invasive Preimplantation Genetic Testing for Aneuploidy and the Mystery of Genetic Material: A Review Article

Preimplantation Genetic Testing

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