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Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers

BACKGROUND: Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs)...

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Autores principales: Cai, Meiying, Lin, Na, Chen, Xuemei, Fu, Meimei, Guo, Nan, Xu, Liangpu, Huang, Hailong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802188/
https://www.ncbi.nlm.nih.gov/pubmed/33435955
http://dx.doi.org/10.1186/s12920-021-00870-w
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author Cai, Meiying
Lin, Na
Chen, Xuemei
Fu, Meimei
Guo, Nan
Xu, Liangpu
Huang, Hailong
author_facet Cai, Meiying
Lin, Na
Chen, Xuemei
Fu, Meimei
Guo, Nan
Xu, Liangpu
Huang, Hailong
author_sort Cai, Meiying
collection PubMed
description BACKGROUND: Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers. METHODS: Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent conventional karyotyping, followed by single nucleotide polymorphism (SNP) array analysis. RESULTS: Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. The rate of abnormal CNVs in fetuses with ultrasonic soft marker, two ultrasonic soft markers, three or more ultrasonic soft markers were 6.2%, 6.2%, and 5.0%, respectively. No significant difference was found in the rate of abnormal CNVs among the groups. CONCLUSIONS: Genetic abnormalities affect obstetrical outcomes. The SNP array can fully complement conventional karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect pregnancy outcomes.
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spelling pubmed-78021882021-01-13 Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers Cai, Meiying Lin, Na Chen, Xuemei Fu, Meimei Guo, Nan Xu, Liangpu Huang, Hailong BMC Med Genomics Research Article BACKGROUND: Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers. METHODS: Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent conventional karyotyping, followed by single nucleotide polymorphism (SNP) array analysis. RESULTS: Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. The rate of abnormal CNVs in fetuses with ultrasonic soft marker, two ultrasonic soft markers, three or more ultrasonic soft markers were 6.2%, 6.2%, and 5.0%, respectively. No significant difference was found in the rate of abnormal CNVs among the groups. CONCLUSIONS: Genetic abnormalities affect obstetrical outcomes. The SNP array can fully complement conventional karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect pregnancy outcomes. BioMed Central 2021-01-12 /pmc/articles/PMC7802188/ /pubmed/33435955 http://dx.doi.org/10.1186/s12920-021-00870-w Text en © The Author(s) 2021 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 Article
Cai, Meiying
Lin, Na
Chen, Xuemei
Fu, Meimei
Guo, Nan
Xu, Liangpu
Huang, Hailong
Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers
title Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers
title_full Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers
title_fullStr Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers
title_full_unstemmed Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers
title_short Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers
title_sort evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802188/
https://www.ncbi.nlm.nih.gov/pubmed/33435955
http://dx.doi.org/10.1186/s12920-021-00870-w
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