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Current, Emerging, and Future Applications of Digital PCR in Non-Invasive Prenatal Diagnosis

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Abstract

Digital PCR (dPCR) approaches have been developed for the detection of nucleic acids of low abundance, such as cell-free DNA, and represent an attractive and sensitive alternative to conventional methods, particularly in the field of non-invasive prenatal diagnosis (NIPD). In this review, we present the principle of dPCR and its applications in the field of prenatal diagnosis from current and emerging uses, such as fetal gender determination, rhesus blood group D antigen genotyping, or monogenic disorders prenatal testing, to future applications, such as the diagnosis and monitoring of pregnancy-related disorders. We also address considerations for implementation of the method in a clinical laboratory and discuss the competiveness of dPCR over other technologies such as quantitative PCR or massively parallel sequencing.

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Acknowledgements

We thank all the clinical centers participating in the Diagnostic Ante Natal Non Invasif (DANNI) project. We are grateful to the geneticists, obstetricians, midwifes, nurses, and laboratory technicians and we thank the families for their participation. We also thank Mathilde Pacault and the French Digital PCR Working Group for our fruitful discussion.

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Authors and Affiliations

  1. Juliette Nectoux, Service de Génétique et Biologie Moléculaires, HUPC Hôpital Cochin, 27 rue du Faubourg Saint Jacques, 75014, Paris, France

    Juliette Nectoux

  2. INSERM, U1016, Institut Cochin, CNRS UMR8104, Université Paris Descartes, Paris, France

    Juliette Nectoux

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Correspondence to Juliette Nectoux.

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Juliette Nectoux declares no conflicts of interest.

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Funding was received from Agence de la Biomédecine (Project R13188KK), Vaincre la mucoviscidose (Project RC2013500852), and Association Française contre les Myopathies (Project AFM AO2019-No. 19832).

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Nectoux, J. Current, Emerging, and Future Applications of Digital PCR in Non-Invasive Prenatal Diagnosis. Mol Diagn Ther 22, 139–148 (2018). https://doi.org/10.1007/s40291-017-0312-x

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