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Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting
This study aimed to compare the screening performance of genome-wide cfDNA testing for chromosomal abnormalities between two periods where additional findings were reported and not reported. Data were obtained from consecutive pregnant women with a singleton pregnancy at ≥10 weeks who requested cfDN...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600475/ https://www.ncbi.nlm.nih.gov/pubmed/36292129 http://dx.doi.org/10.3390/diagnostics12102439 |
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author | Kwan, Angel H. W. Zhu, Xiaofan Mar Gil, Maria Kwok, Yvonne K. Y. Wah, Isabella Y. M. Hui, Annie S. Y. Ting, Yuen-Ha Law, Kwok-Ming Lau, Doris Xue, Shuwen Choy, Kwong-Wai Sahota, Daljit Leung, Tak-Yeung Poon, Liona C. |
author_facet | Kwan, Angel H. W. Zhu, Xiaofan Mar Gil, Maria Kwok, Yvonne K. Y. Wah, Isabella Y. M. Hui, Annie S. Y. Ting, Yuen-Ha Law, Kwok-Ming Lau, Doris Xue, Shuwen Choy, Kwong-Wai Sahota, Daljit Leung, Tak-Yeung Poon, Liona C. |
author_sort | Kwan, Angel H. W. |
collection | PubMed |
description | This study aimed to compare the screening performance of genome-wide cfDNA testing for chromosomal abnormalities between two periods where additional findings were reported and not reported. Data were obtained from consecutive pregnant women with a singleton pregnancy at ≥10 weeks who requested cfDNA testing during 2015–2019. The performance of screening of the cfDNA test was determined by calculating the concordance rate, detection rate, and false-positive rate. Data from 3981 women were included. The no-result rates were similar between the two reporting periods (2.04% vs. 2.08%). Concordance rates for trisomy 21 and 18 were 100% and 100%, respectively. There were two cases tested high risk for trisomy 13, with a concordance rate of 0%. In total, 12 cases were high risk for any sex chromosome aneuploidy with an overall concordance of 75%, and 15 cases tested high risk for any rare autosomal trisomy, with a 13.3% concordance rate. The detection rates for trisomy 21 and 18 were 100% and 100%, respectively. For any SCA, the detection rate was 90%. For the two reporting periods, the combined false-positive rates were 0.93% and 0.17%, which were significantly different (p = 0.002). Restricting the reporting of additional findings from genome-wide cfDNA analysis has reduced the false-positive rate but without a reduction in the no-result rate. |
format | Online Article Text |
id | pubmed-9600475 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-96004752022-10-27 Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting Kwan, Angel H. W. Zhu, Xiaofan Mar Gil, Maria Kwok, Yvonne K. Y. Wah, Isabella Y. M. Hui, Annie S. Y. Ting, Yuen-Ha Law, Kwok-Ming Lau, Doris Xue, Shuwen Choy, Kwong-Wai Sahota, Daljit Leung, Tak-Yeung Poon, Liona C. Diagnostics (Basel) Article This study aimed to compare the screening performance of genome-wide cfDNA testing for chromosomal abnormalities between two periods where additional findings were reported and not reported. Data were obtained from consecutive pregnant women with a singleton pregnancy at ≥10 weeks who requested cfDNA testing during 2015–2019. The performance of screening of the cfDNA test was determined by calculating the concordance rate, detection rate, and false-positive rate. Data from 3981 women were included. The no-result rates were similar between the two reporting periods (2.04% vs. 2.08%). Concordance rates for trisomy 21 and 18 were 100% and 100%, respectively. There were two cases tested high risk for trisomy 13, with a concordance rate of 0%. In total, 12 cases were high risk for any sex chromosome aneuploidy with an overall concordance of 75%, and 15 cases tested high risk for any rare autosomal trisomy, with a 13.3% concordance rate. The detection rates for trisomy 21 and 18 were 100% and 100%, respectively. For any SCA, the detection rate was 90%. For the two reporting periods, the combined false-positive rates were 0.93% and 0.17%, which were significantly different (p = 0.002). Restricting the reporting of additional findings from genome-wide cfDNA analysis has reduced the false-positive rate but without a reduction in the no-result rate. MDPI 2022-10-09 /pmc/articles/PMC9600475/ /pubmed/36292129 http://dx.doi.org/10.3390/diagnostics12102439 Text en © 2022 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 | Article Kwan, Angel H. W. Zhu, Xiaofan Mar Gil, Maria Kwok, Yvonne K. Y. Wah, Isabella Y. M. Hui, Annie S. Y. Ting, Yuen-Ha Law, Kwok-Ming Lau, Doris Xue, Shuwen Choy, Kwong-Wai Sahota, Daljit Leung, Tak-Yeung Poon, Liona C. Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting |
title | Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting |
title_full | Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting |
title_fullStr | Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting |
title_full_unstemmed | Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting |
title_short | Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting |
title_sort | genome-wide cell-free dna test for fetal chromosomal abnormalities and variants: unrestricted versus restricted reporting |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600475/ https://www.ncbi.nlm.nih.gov/pubmed/36292129 http://dx.doi.org/10.3390/diagnostics12102439 |
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