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Novel Approaches to an Integrated Route for Trisomy 21 Evaluation
Trisomy 21 (T21) is one of the most commonly occurring genetic disorders, caused by the partial or complete triplication of chromosome 21. Despite the significant progress in the diagnostic tools applied for prenatal screening, commonly used methods are still imprecise and involve invasive diagnosti...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8465311/ https://www.ncbi.nlm.nih.gov/pubmed/34572541 http://dx.doi.org/10.3390/biom11091328 |
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author | Buczyńska, Angelika Sidorkiewicz, Iwona Trochimiuk, Anna Ławicki, Sławomir Krętowski, Adam Jacek Zbucka-Krętowska, Monika |
author_facet | Buczyńska, Angelika Sidorkiewicz, Iwona Trochimiuk, Anna Ławicki, Sławomir Krętowski, Adam Jacek Zbucka-Krętowska, Monika |
author_sort | Buczyńska, Angelika |
collection | PubMed |
description | Trisomy 21 (T21) is one of the most commonly occurring genetic disorders, caused by the partial or complete triplication of chromosome 21. Despite the significant progress in the diagnostic tools applied for prenatal screening, commonly used methods are still imprecise and involve invasive diagnostic procedures that are related to a maternal risk of miscarriage. In this case, novel prenatal biomarkers are still being evaluated using highly specialized techniques, which could increase the diagnostic usefulness of biochemical prenatal screening for T21. From the other hand, the T21′s pathogenesis, caused by the improper division of genetic material, disrupting many metabolic pathways, could be further evaluated with the use of omics methods, which could result in bringing relevant insights for the evaluation of potential medical targets. Accordingly, a literature search was undertaken to collect novel information about prenatal screening for Down syndrome with the use of advanced technology, with a particular emphasis on the evaluation of novel screening biomarkers and the discovery of potential medical targets. These meta-analyses are focused on novel approaches designed with the use of omics techniques, representing the most rapidly developing and promising field in research today. Considering the limitations and progress of these methods, the use of omics techniques in evaluating T21 pathogenesis could bring beneficial results in prenatal screening, simultaneously uncovering novel potential medical targets. |
format | Online Article Text |
id | pubmed-8465311 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-84653112021-09-27 Novel Approaches to an Integrated Route for Trisomy 21 Evaluation Buczyńska, Angelika Sidorkiewicz, Iwona Trochimiuk, Anna Ławicki, Sławomir Krętowski, Adam Jacek Zbucka-Krętowska, Monika Biomolecules Review Trisomy 21 (T21) is one of the most commonly occurring genetic disorders, caused by the partial or complete triplication of chromosome 21. Despite the significant progress in the diagnostic tools applied for prenatal screening, commonly used methods are still imprecise and involve invasive diagnostic procedures that are related to a maternal risk of miscarriage. In this case, novel prenatal biomarkers are still being evaluated using highly specialized techniques, which could increase the diagnostic usefulness of biochemical prenatal screening for T21. From the other hand, the T21′s pathogenesis, caused by the improper division of genetic material, disrupting many metabolic pathways, could be further evaluated with the use of omics methods, which could result in bringing relevant insights for the evaluation of potential medical targets. Accordingly, a literature search was undertaken to collect novel information about prenatal screening for Down syndrome with the use of advanced technology, with a particular emphasis on the evaluation of novel screening biomarkers and the discovery of potential medical targets. These meta-analyses are focused on novel approaches designed with the use of omics techniques, representing the most rapidly developing and promising field in research today. Considering the limitations and progress of these methods, the use of omics techniques in evaluating T21 pathogenesis could bring beneficial results in prenatal screening, simultaneously uncovering novel potential medical targets. MDPI 2021-09-08 /pmc/articles/PMC8465311/ /pubmed/34572541 http://dx.doi.org/10.3390/biom11091328 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Buczyńska, Angelika Sidorkiewicz, Iwona Trochimiuk, Anna Ławicki, Sławomir Krętowski, Adam Jacek Zbucka-Krętowska, Monika Novel Approaches to an Integrated Route for Trisomy 21 Evaluation |
title | Novel Approaches to an Integrated Route for Trisomy 21 Evaluation |
title_full | Novel Approaches to an Integrated Route for Trisomy 21 Evaluation |
title_fullStr | Novel Approaches to an Integrated Route for Trisomy 21 Evaluation |
title_full_unstemmed | Novel Approaches to an Integrated Route for Trisomy 21 Evaluation |
title_short | Novel Approaches to an Integrated Route for Trisomy 21 Evaluation |
title_sort | novel approaches to an integrated route for trisomy 21 evaluation |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8465311/ https://www.ncbi.nlm.nih.gov/pubmed/34572541 http://dx.doi.org/10.3390/biom11091328 |
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