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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...

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Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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.
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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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