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Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? A systematic review.
Reprod Biomed Online. 2020 Jun; 40(6):779-796.RB

Abstract

Preimplantation 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.

Authors+Show Affiliations

Université Grenoble-Alpes, Inserm 1036, Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut de Biosciences et Biotechnologies de Grenoble (BIG), Laboratoire Biologie du Cancer et de l'Infection (BCI), Grenoble 38000, France; Centre Hospitalier Universitaire de Grenoble, Hôpital Couple-Enfant, Centre Clinique et Biologique d'Assistance Médicale à la Procréation- Centre d'étude et de conservation des œufs et du sperme humains (CECOS), La Tronche 38700, France; INSERM U1203, Equipe "Développement Embryonnaire Précoce Humain et Pluripotence", Institut de Médecine Régénératrice et de Biothérapie, Hôpital Saint-Eloi, Montpellier 34295, France.Université Grenoble-Alpes, Inserm, Institute for Advanced Biosciences (IAB), équipe Génétique Epigénétique et Thérapie de l'Infertilité (GETI), Grenoble 38000, France; Centre Hospitalier Universitaire de Grenoble, Hôpital Couple Enfant, Département de Génétique et Procréation, Laboratoire de Génétique Chromosomique, La Tronche 38700, France.Université Grenoble-Alpes, Inserm, Institute for Advanced Biosciences (IAB), équipe Génétique Epigénétique et Thérapie de l'Infertilité (GETI), Grenoble 38000, France; Centre Hospitalier Universitaire de Grenoble, Hôpital Couple Enfant, Département de Génétique et Procréation, Laboratoire de Génétique Chromosomique, La Tronche 38700, France.INSERM U1203, Equipe "Développement Embryonnaire Précoce Humain et Pluripotence", Institut de Médecine Régénératrice et de Biothérapie, Hôpital Saint-Eloi, Montpellier 34295, France; CHU Montpellier, ART/PGD Division, Hôpital Arnaud de Villeneuve, Montpellier, Cedex 5, Montpellier 34295, France. Electronic address: s-hamamah@chu-montpellier.fr.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

32417199

Citation

Brouillet, Sophie, et al. "Is Cell-free DNA in Spent Embryo Culture Medium an Alternative to Embryo Biopsy for Preimplantation Genetic Testing? a Systematic Review." Reproductive Biomedicine Online, vol. 40, no. 6, 2020, pp. 779-796.
Brouillet S, Martinez G, Coutton C, et al. Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? A systematic review. Reprod Biomed Online. 2020;40(6):779-796.
Brouillet, S., Martinez, G., Coutton, C., & Hamamah, S. (2020). Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? A systematic review. Reproductive Biomedicine Online, 40(6), 779-796. https://doi.org/10.1016/j.rbmo.2020.02.002
Brouillet S, et al. Is Cell-free DNA in Spent Embryo Culture Medium an Alternative to Embryo Biopsy for Preimplantation Genetic Testing? a Systematic Review. Reprod Biomed Online. 2020;40(6):779-796. PubMed PMID: 32417199.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? A systematic review. AU - Brouillet,Sophie, AU - Martinez,Guillaume, AU - Coutton,Charles, AU - Hamamah,Samir, Y1 - 2020/02/20/ PY - 2019/06/14/received PY - 2020/01/29/revised PY - 2020/02/02/accepted PY - 2020/5/18/pubmed PY - 2020/5/18/medline PY - 2020/5/18/entrez KW - Embryo KW - Non-invasive KW - Preimplantation genetic testing KW - Screening KW - Spent culture medium SP - 779 EP - 796 JF - Reproductive biomedicine online JO - Reprod. Biomed. Online VL - 40 IS - 6 N2 - Preimplantation 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. SN - 1472-6491 UR - https://www.unboundmedicine.com/medline/citation/32417199/Is_cell-free_DNA_in_spent_embryo_culture_medium_an_alternative_to_embryo_biopsy_for_preimplantation_genetic_testing_A_systematic_review L2 - https://linkinghub.elsevier.com/retrieve/pii/S1472-6483(20)30088-2 DB - PRIME DP - Unbound Medicine ER -
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