Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond

The release of fetoplacental cell-free DNA (cfDNA) into the maternal bloodstream opened up new avenues towards noninvasive prenatal testing (NIPT) for aneuploidies, hereditary DNA mutations and other pregnancy-related developmental disorders. Increasingly, cfDNA catches interest for its noninvasive...

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Autores principales:	Kavish Kohabir, Rob Wolthuis, Erik A. Sistermans
Formato:	article
Lenguaje:	EN
Publicado:	Diponegoro University 2021
Materias:	fragmentomics cfdna ctdna nipt/nips prenatal testing Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/a1845b7fe20640f2a24b4900a5abd018
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spelling	oai:doaj.org-article:a1845b7fe20640f2a24b4900a5abd0182021-11-05T16:47:43ZFragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond2503-217810.14710/jbtr.v7i1.10229https://doaj.org/article/a1845b7fe20640f2a24b4900a5abd0182021-04-01T00:00:00Zhttps://ejournal2.undip.ac.id/index.php/jbtr/article/view/10229https://doaj.org/toc/2503-2178The release of fetoplacental cell-free DNA (cfDNA) into the maternal bloodstream opened up new avenues towards noninvasive prenatal testing (NIPT) for aneuploidies, hereditary DNA mutations and other pregnancy-related developmental disorders. Increasingly, cfDNA catches interest for its noninvasive screening value in other areas as well, including oncology. Although there are indications that cfDNA fragmentation is a non-random process, the etiology and different structural aspects of cfDNA are still not well known. The emerging field of cfDNA fragmentomics investigates the existence of tissue and disease specific cfDNA signatures and the chemistry and biology underlying the fragmentation process. This review sheds light on recent developments in cfDNA fragmentomics and illustrates their significance in NIPT improvement and beyond. We discuss aspects of fragment size distributions, epigenetic correlations and putatively enriched cfDNA fragment-end compositions. Combinatorial fragmentomic efforts have provided more insights into the roles of different enzymes that contribute to the fragmentation process in the tissue of origin and in the bloodstream. Altogether, these studies revealed multiple fragmentomic-related biomarkers that can be used to make noninvasive screening and other types of clinical use of cfDNA more robust, by raising its distinctive capacities. This includes multiple complementary approaches to determine the fetal fraction, a key determinant in NIPT. Furthermore, these developments translate to a better understanding of the encountered cfDNA patterns and will catalyze the expansion of screening possibilities in NIPT and beyondKavish KohabirRob WolthuisErik A. SistermansDiponegoro Universityarticlefragmentomicscfdnactdnanipt/nipsprenatal testingMedicine (General)R5-920ENJournal of Biomedicine and Translational Research, Vol 7, Iss 1, Pp 38-47 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	fragmentomics cfdna ctdna nipt/nips prenatal testing Medicine (General) R5-920
spellingShingle	fragmentomics cfdna ctdna nipt/nips prenatal testing Medicine (General) R5-920 Kavish Kohabir Rob Wolthuis Erik A. Sistermans Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond
description	The release of fetoplacental cell-free DNA (cfDNA) into the maternal bloodstream opened up new avenues towards noninvasive prenatal testing (NIPT) for aneuploidies, hereditary DNA mutations and other pregnancy-related developmental disorders. Increasingly, cfDNA catches interest for its noninvasive screening value in other areas as well, including oncology. Although there are indications that cfDNA fragmentation is a non-random process, the etiology and different structural aspects of cfDNA are still not well known. The emerging field of cfDNA fragmentomics investigates the existence of tissue and disease specific cfDNA signatures and the chemistry and biology underlying the fragmentation process. This review sheds light on recent developments in cfDNA fragmentomics and illustrates their significance in NIPT improvement and beyond. We discuss aspects of fragment size distributions, epigenetic correlations and putatively enriched cfDNA fragment-end compositions. Combinatorial fragmentomic efforts have provided more insights into the roles of different enzymes that contribute to the fragmentation process in the tissue of origin and in the bloodstream. Altogether, these studies revealed multiple fragmentomic-related biomarkers that can be used to make noninvasive screening and other types of clinical use of cfDNA more robust, by raising its distinctive capacities. This includes multiple complementary approaches to determine the fetal fraction, a key determinant in NIPT. Furthermore, these developments translate to a better understanding of the encountered cfDNA patterns and will catalyze the expansion of screening possibilities in NIPT and beyond
format	article
author	Kavish Kohabir Rob Wolthuis Erik A. Sistermans
author_facet	Kavish Kohabir Rob Wolthuis Erik A. Sistermans
author_sort	Kavish Kohabir
title	Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond
title_short	Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond
title_full	Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond
title_fullStr	Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond
title_full_unstemmed	Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond
title_sort	fragmentomic cfdna patterns in noninvasive prenatal testing and beyond
publisher	Diponegoro University
publishDate	2021
url	https://doaj.org/article/a1845b7fe20640f2a24b4900a5abd018
work_keys_str_mv	AT kavishkohabir fragmentomiccfdnapatternsinnoninvasiveprenataltestingandbeyond AT robwolthuis fragmentomiccfdnapatternsinnoninvasiveprenataltestingandbeyond AT erikasistermans fragmentomiccfdnapatternsinnoninvasiveprenataltestingandbeyond
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Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond

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