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Non-invasive Prenatal Testing Using Fetal DNA

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Abstract

Non-invasive prenatal diagnosis (NIPD) is based on fetal DNA analysis starting from a simple peripheral blood sample, thus avoiding risks associated with conventional invasive techniques. During pregnancy, the fetal DNA increases to approximately 3–13% of the total circulating free DNA in maternal plasma. The very low amount of circulating cell-free fetal DNA (ccffDNA) in maternal plasma is a crucial issue, and requires specific and optimized techniques for ccffDNA purification from maternal plasma. In addition, highly sensitive detection approaches are required. In recent years, advanced ccffDNA investigation approaches have allowed the application of non-invasive prenatal testing (NIPT) to determine fetal sex, fetal rhesus D (RhD) genotyping, aneuploidies, micro-deletions and the detection of paternally inherited monogenic disorders. Finally, complex and innovative technologies such as digital polymerase chain reaction (dPCR) and next-generation sequencing (NGS) (exhibiting higher sensitivity and/or the capability to read the entire fetal genome from maternal plasma DNA) are expected to allow the detection, in the near future, of maternally inherited mutations that cause genetic diseases. The aim of this review is to introduce the principal ccffDNA characteristics and their applications as the basis of current and novel NIPT.

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Authors and Affiliations

  1. Department of Life Sciences and Biotechnology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy

    Giulia Breveglieri, Elisabetta D’Aversa, Alessia Finotti & Monica Borgatti

  2. Interuniversity Consortium for Biotechnologies (CIB), Trieste, Italy

    Alessia Finotti

  3. Biotechnology Center, University of Ferrara, Via Fossato di Mortara 64, 44121, Ferrara, Italy

    Monica Borgatti

Authors
  1. Giulia Breveglieri
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  2. Elisabetta D’Aversa
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  3. Alessia Finotti
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  4. Monica Borgatti
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Corresponding author

Correspondence to Monica Borgatti.

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Conflict of interest

Giulia Breveglieri, Elisabetta D’Aversa, Alessia Finotti, and Monica Borgatti have no conflicts of interest that are directly relevant to the content of this review.

Funding

This study was supported by the EU FP7 THALAMOSS Project (THALAssaemia MOdular Stratification System for personalized therapy of beta-thalassemia; grant number [306201]-FP7-Health-2012-INNOVATION-1). All funding bodies had no role in the design of the study, collection, analysis, and interpretation of data, or in writing the manuscript.

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Breveglieri, G., D’Aversa, E., Finotti, A. et al. Non-invasive Prenatal Testing Using Fetal DNA. Mol Diagn Ther 23, 291–299 (2019). https://doi.org/10.1007/s40291-019-00385-2

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  • DOI: https://doi.org/10.1007/s40291-019-00385-2

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