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Molecular Diagnosis & Therapy
Published in: Molecular Diagnosis & Therapy 2/2019

01-04-2019 | Polymerase Chain Reaction | Review Article

Non-invasive Prenatal Testing Using Fetal DNA

Authors: Giulia Breveglieri, Elisabetta D’Aversa, Alessia Finotti, Monica Borgatti

Published in: Molecular Diagnosis & Therapy | Issue 2/2019

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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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Metadata
Title
Non-invasive Prenatal Testing Using Fetal DNA
Authors
Giulia Breveglieri
Elisabetta D’Aversa
Alessia Finotti
Monica Borgatti
Publication date
01-04-2019
Publisher
Springer International Publishing
Published in
Molecular Diagnosis & Therapy / Issue 2/2019
Print ISSN: 1177-1062
Electronic ISSN: 1179-2000
DOI
https://doi.org/10.1007/s40291-019-00385-2

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