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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)...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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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. |
format | Online Article Text |
id | pubmed-7802188 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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