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Grant support

This study was funded by the Fondo de Investigaciones Sanitarias, Instituto Carlos III-Fondo Europeo de Desarrollo Regional (FEDER) (PI 080012, PI 1100625) to JN and Grup de Suport a la Recerca of the Generalitat de Catalunya (2014SGR0903) to JB.

Analysis of institutional authors

Vidal FAuthorFernandez SfAuthorSalaverria IAuthorNavarro JCorresponding Author

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Article

Novel Double Factor PGT strategy analyzing blastocyst stage embryos in a single NGS procedure

Publicated to:Plos One. 13 (10): e0205692- - 2018-10-17 13(10), DOI: 10.1371/journal.pone.0205692

Authors: del Rey, Javier; Vidal, Francisco; Ramirez, Lorena; Borras, Nina; Corrales, Irene; Garcia, Iris; Martinez-Pasarell, Olga; Fernandez, Silvia F; Garcia-Cruz, Raquel; Pujol, Aida; Plaja, Alberto; Salaverria, Itziar; Oliver-Bonet, Maria; Benet, Jordi; Navarro, Joaquima

Affiliations

Blood & Tissue Bank, Congenital Coagulopathies, Barcelona, Spain - Author
CIRH, Eugin Grp, Barcelona, Spain - Author
Ctr Embryo Med, Barcelona, Spain       - Author
Ctr Invest Biomed Red Canc, Hosp Clin, Inst Invest Biomed August Pi Sunyer, Hematopathol Unit, Barcelona, Spain      IDIBAPS    CIBER - Centro de Investigacion Biomedica en Red    Hospital Clinic de Barcelona    CIBERONC    University of Barcelona - Author
Hosp St Pau & Santa Creu, Fundacio Puigvert, Barcelona, Spain      Fundacio Puigvert       - Author
Hosp Valle De Hebron, Area Genet Clin & Mol, Barcelona, Spain      Hospital Universitari Vall d'Hebron - Author
ISCIII, CIBER Enfermedades Cardiovasc CIBERCV, Madrid, Spain      CIBER - Centro de Investigacion Biomedica en Red    CIBERCV - Author
UAB, VHIR, Vall dHebron Res Inst, Mol Diag & Therapy, Barcelona, Spain      Autonomous University of Barcelona    Vall d'Hebron Institut de Recerca (VHIR)    Hospital Universitari Vall d'Hebron    Catalan Health Institute - Author
Univ Autonoma Barcelona, Dept Biol Cellular Fisiol & Immunol, Unitat Biol Cellular & Genet Med, Fac Med, Bellaterra, Spain.      Autonomous University of Barcelona - Author
Univ Autonoma Barcelona, Dept Biol Cellular Fisiol & Immunol, Unitat Biol Cellular & Genet Med, Fac Med, Bellaterra, Spain      Autonomous University of Barcelona       - Author
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Abstract

In families at risk from monogenic diseases affected offspring, it is fundamental the development of a suitable Double Factor Preimplantation Genetic Testing (DF-PGT) method for both single-gene analysis and chromosome complement screening. Aneuploidy is not only a major issue in advanced-maternal-age patients and balanced translocation carriers, but also the aneuploidy rate is extremely high in patients undergoing in vitro fertilization (IVF), even in young donors. To adequate NGS technology to the DF-PGT strategy four different whole genome amplification systems (Sureplex, MALBAC, and two multiple displacement amplification systems-MDA) were tested using TruSight One panel on cell lines and blastocyst trophectoderm biopsies-TE. Embryo cytogenetic status was analyzed by Nexus software. Sureplex and MALBAC DNA products were considered not suitable for PGT diagnosis due to inconsistent and poor results on Trusight one (TSO) panel. Results obtained with both MDA based methods (GEH-MDA and RG-MDA) were appropriate for direct mutation detection by TSO NGS platform. Nevertheless, RG-MDA amplification products showed better coverage and lower ADO rates than GEH-MDA. The present work also demonstrates that the same TSO sequencing data is suitable not only for the direct mutation detection, but also for the indirect mutation detection by linkage analysis of informative SNPs. The present work also demonstrates that Nexus software is competent for the detection of CNV by using with TSO sequencing data from RG-MDA products, allowing for the whole cytogenetic characterization of the embryos. In conclusion, successfully development of an innovative and promising DF-PGT strategy using TSO-NGS technology in TE biopsies, performed in-house in a single laboratory experience, has been done in the present work. Additional studies should be performed before it could be used as a diagnostic alternative in order to validate this approach for the detection of chromosomal aneuploidies.

Keywords

amplificationaneuploidycomparative genomic hybridizationdiseaseimplantationin-vitrolive birthsphi-29 dna-polymerasesequencing-based protocolAneuploidyBlastocystCell lineChromosomesCytogenetic analysisEmbryo transferFactor analysis, statisticalFemaleFertilization in vitroGenetic diseases, inbornGenetic testingHigh-throughput nucleotide sequencingHumansPregnancyPreimplantation diagnosisPreimplantation genetic diagnosisSoftwareWhole genome sequencing

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Plos One due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2018, it was in position , thus managing to position itself as a Q1 (Primer Cuartil), in the category Agricultural and Biological Sciences (Miscellaneous).

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 2.24, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions Jun 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-06-28, the following number of citations:

  • WoS: 7
  • Scopus: 9
  • Europe PMC: 5

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-28:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 41.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 41 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 36.
  • The number of mentions in news outlets: 5 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.

Leadership analysis of institutional authors

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: Last Author (Navarro Otano, Judith).

the author responsible for correspondence tasks has been Navarro Otano, Judith.