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Result of Prospective Validation of the Trisomy Test(®) for the Detection of Chromosomal Trisomies
Noninvasive prenatal testing (NIPT) is one of the most common prenatal screening tests used worldwide. Trisomy Test(®) belongs to NIPT tests based on low-coverage whole-genome sequencing. In our prospective study, 7279 samples of pregnant women collected during approximately two years were analyzed....
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6963324/ https://www.ncbi.nlm.nih.gov/pubmed/31581694 http://dx.doi.org/10.3390/diagnostics9040138 |
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author | Sekelska, Martina Izsakova, Anita Kubosova, Katarina Tilandyova, Petra Csekes, Erika Kuchova, Zaneta Hyblova, Michaela Harsanyova, Maria Kucharik, Marcel Budis, Jaroslav Szemes, Tomas Minarik, Gabriel |
author_facet | Sekelska, Martina Izsakova, Anita Kubosova, Katarina Tilandyova, Petra Csekes, Erika Kuchova, Zaneta Hyblova, Michaela Harsanyova, Maria Kucharik, Marcel Budis, Jaroslav Szemes, Tomas Minarik, Gabriel |
author_sort | Sekelska, Martina |
collection | PubMed |
description | Noninvasive prenatal testing (NIPT) is one of the most common prenatal screening tests used worldwide. Trisomy Test(®) belongs to NIPT tests based on low-coverage whole-genome sequencing. In our prospective study, 7279 samples of pregnant women collected during approximately two years were analyzed. In this cohort, 117 positive cases for trisomies 21, 18, and 13 were reported. An in-house designed bioinformatic pipeline and proprietary biostatistical approach was used for the detection of trisomies. The pooled sensitivity and specificity of our test reached 99.12% and 99.94%, respectively. The proportion of repeatedly uninformative results after repeated blood draws was 1.11%. Based on the presented results, we can confirm that the Trisomy Test(®) is fully comparable with other commercial NIPT tests available worldwide. |
format | Online Article Text |
id | pubmed-6963324 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-69633242020-02-26 Result of Prospective Validation of the Trisomy Test(®) for the Detection of Chromosomal Trisomies Sekelska, Martina Izsakova, Anita Kubosova, Katarina Tilandyova, Petra Csekes, Erika Kuchova, Zaneta Hyblova, Michaela Harsanyova, Maria Kucharik, Marcel Budis, Jaroslav Szemes, Tomas Minarik, Gabriel Diagnostics (Basel) Communication Noninvasive prenatal testing (NIPT) is one of the most common prenatal screening tests used worldwide. Trisomy Test(®) belongs to NIPT tests based on low-coverage whole-genome sequencing. In our prospective study, 7279 samples of pregnant women collected during approximately two years were analyzed. In this cohort, 117 positive cases for trisomies 21, 18, and 13 were reported. An in-house designed bioinformatic pipeline and proprietary biostatistical approach was used for the detection of trisomies. The pooled sensitivity and specificity of our test reached 99.12% and 99.94%, respectively. The proportion of repeatedly uninformative results after repeated blood draws was 1.11%. Based on the presented results, we can confirm that the Trisomy Test(®) is fully comparable with other commercial NIPT tests available worldwide. MDPI 2019-10-02 /pmc/articles/PMC6963324/ /pubmed/31581694 http://dx.doi.org/10.3390/diagnostics9040138 Text en © 2019 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Communication Sekelska, Martina Izsakova, Anita Kubosova, Katarina Tilandyova, Petra Csekes, Erika Kuchova, Zaneta Hyblova, Michaela Harsanyova, Maria Kucharik, Marcel Budis, Jaroslav Szemes, Tomas Minarik, Gabriel Result of Prospective Validation of the Trisomy Test(®) for the Detection of Chromosomal Trisomies |
title | Result of Prospective Validation of the Trisomy Test(®) for the Detection of Chromosomal Trisomies |
title_full | Result of Prospective Validation of the Trisomy Test(®) for the Detection of Chromosomal Trisomies |
title_fullStr | Result of Prospective Validation of the Trisomy Test(®) for the Detection of Chromosomal Trisomies |
title_full_unstemmed | Result of Prospective Validation of the Trisomy Test(®) for the Detection of Chromosomal Trisomies |
title_short | Result of Prospective Validation of the Trisomy Test(®) for the Detection of Chromosomal Trisomies |
title_sort | result of prospective validation of the trisomy test(®) for the detection of chromosomal trisomies |
topic | Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6963324/ https://www.ncbi.nlm.nih.gov/pubmed/31581694 http://dx.doi.org/10.3390/diagnostics9040138 |
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