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Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma
BACKGROUND: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, and 13. However, reports on NIPT performance in sex chromosome aneuploidies (SCA) based on real clinical data are still limited. METHODS: High-throughput massively parallel g...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7068885/ https://www.ncbi.nlm.nih.gov/pubmed/32190123 http://dx.doi.org/10.1186/s13039-020-0478-5 |
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author | Wang, Yipeng Li, Shanshan Wang, Wei Dong, Yuan Zhang, Meng Wang, Xin Yin, Chenghong |
author_facet | Wang, Yipeng Li, Shanshan Wang, Wei Dong, Yuan Zhang, Meng Wang, Xin Yin, Chenghong |
author_sort | Wang, Yipeng |
collection | PubMed |
description | BACKGROUND: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, and 13. However, reports on NIPT performance in sex chromosome aneuploidies (SCA) based on real clinical data are still limited. METHODS: High-throughput massively parallel genomic sequencing (MPS) technique was used to screen for fetal SCAs as part of the research to determine the potential value of NIPT in detecting fetal SCAs in the second trimester. A number of 12,243 consecutive cases from a single center were included in this study. RESULTS: The positive predictive value (PPV) of NIPT in the present study was 57.6%, which was divided and categorized by individual SCAs as follows: 21.4% for Turner syndrome (45,X), 75.0% for Triple X syndrome (47,XXX), 90.9% for Klinefelter syndrome (47,XXY), and 75.0% for XYY syndrome (47,XYY). CONCLUSION: The NIPT-based SCA test cannot be used as a diagnostic method, and performing an invasive confirmation test on NIPT-based SCA-positive cases is strongly recommended. |
format | Online Article Text |
id | pubmed-7068885 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-70688852020-03-18 Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma Wang, Yipeng Li, Shanshan Wang, Wei Dong, Yuan Zhang, Meng Wang, Xin Yin, Chenghong Mol Cytogenet Research BACKGROUND: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, and 13. However, reports on NIPT performance in sex chromosome aneuploidies (SCA) based on real clinical data are still limited. METHODS: High-throughput massively parallel genomic sequencing (MPS) technique was used to screen for fetal SCAs as part of the research to determine the potential value of NIPT in detecting fetal SCAs in the second trimester. A number of 12,243 consecutive cases from a single center were included in this study. RESULTS: The positive predictive value (PPV) of NIPT in the present study was 57.6%, which was divided and categorized by individual SCAs as follows: 21.4% for Turner syndrome (45,X), 75.0% for Triple X syndrome (47,XXX), 90.9% for Klinefelter syndrome (47,XXY), and 75.0% for XYY syndrome (47,XYY). CONCLUSION: The NIPT-based SCA test cannot be used as a diagnostic method, and performing an invasive confirmation test on NIPT-based SCA-positive cases is strongly recommended. BioMed Central 2020-03-12 /pmc/articles/PMC7068885/ /pubmed/32190123 http://dx.doi.org/10.1186/s13039-020-0478-5 Text en © The Author(s). 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Wang, Yipeng Li, Shanshan Wang, Wei Dong, Yuan Zhang, Meng Wang, Xin Yin, Chenghong Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma |
title | Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma |
title_full | Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma |
title_fullStr | Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma |
title_full_unstemmed | Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma |
title_short | Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma |
title_sort | cell-free dna screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7068885/ https://www.ncbi.nlm.nih.gov/pubmed/32190123 http://dx.doi.org/10.1186/s13039-020-0478-5 |
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