Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis

Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis

The discovery of circulating cell-free fetal DNA (cffDNA) in maternal plasma allowed for the development of alternative methodologies that may facilitate safe non-invasive prenatal diagnosis (NIPD). The low concentration of cffDNA in maternal plasma, however, and the coexistence of maternal DNA limi...

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Main Authors: Tounta, Georgia, Kolialexi, Aggeliki, Papantoniou, Nikolas, Tsangaris, George Th., Kanavakis, Emmanuel, Mavrou, Ariadni
Format: Online
Language:English
Published: Springer Netherlands 2011
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405386/
id pubmed-3405386
recordtype oai_dc
spelling pubmed-34053862012-07-27 Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis Tounta, Georgia Kolialexi, Aggeliki Papantoniou, Nikolas Tsangaris, George Th. Kanavakis, Emmanuel Mavrou, Ariadni Review Article The discovery of circulating cell-free fetal DNA (cffDNA) in maternal plasma allowed for the development of alternative methodologies that may facilitate safe non-invasive prenatal diagnosis (NIPD). The low concentration of cffDNA in maternal plasma, however, and the coexistence of maternal DNA limit its clinical application to the detection or exclusion of fetal targets that are not present in the mother, such as Y chromosome sequences, the RHD gene in a RhD-negative woman and genetic conditions inherited from the father. Strategies for NIPD of monogenic disorders and fetal chromosomal aneuploidies have also been achieved using next-generation sequencing and could be introduced to the clinics as soon as cost-effective and high throughput protocols are developed. Springer Netherlands 2011-05-17 2011-06 /pmc/articles/PMC3405386/ /pubmed/23199146 http://dx.doi.org/10.1007/s13167-011-0085-y Text en © European Association for Predictive, Preventive and Personalised Medicine 2011
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Tounta, Georgia
Kolialexi, Aggeliki
Papantoniou, Nikolas
Tsangaris, George Th.
Kanavakis, Emmanuel
Mavrou, Ariadni
spellingShingle Tounta, Georgia
Kolialexi, Aggeliki
Papantoniou, Nikolas
Tsangaris, George Th.
Kanavakis, Emmanuel
Mavrou, Ariadni
Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis
author_facet Tounta, Georgia
Kolialexi, Aggeliki
Papantoniou, Nikolas
Tsangaris, George Th.
Kanavakis, Emmanuel
Mavrou, Ariadni
author_sort Tounta, Georgia
title Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis
title_short Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis
title_full Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis
title_fullStr Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis
title_full_unstemmed Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis
title_sort non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: progress overview beyond predictive and personalized diagnosis
description The discovery of circulating cell-free fetal DNA (cffDNA) in maternal plasma allowed for the development of alternative methodologies that may facilitate safe non-invasive prenatal diagnosis (NIPD). The low concentration of cffDNA in maternal plasma, however, and the coexistence of maternal DNA limit its clinical application to the detection or exclusion of fetal targets that are not present in the mother, such as Y chromosome sequences, the RHD gene in a RhD-negative woman and genetic conditions inherited from the father. Strategies for NIPD of monogenic disorders and fetal chromosomal aneuploidies have also been achieved using next-generation sequencing and could be introduced to the clinics as soon as cost-effective and high throughput protocols are developed.
publisher Springer Netherlands
publishDate 2011
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405386/
_version_ 1611545656829149184

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