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Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two syndrome...

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Autores principales: Li, Suping, Jin, Yuxia, Yang, Jing, Yang, Li, Tang, Ping, Zhou, Chiyan, Wu, Liping, Dong, Jinhua, Chen, Jie, Shen, Huaxiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7346507/
https://www.ncbi.nlm.nih.gov/pubmed/32670410
http://dx.doi.org/10.1186/s13039-020-00498-y
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author Li, Suping
Jin, Yuxia
Yang, Jing
Yang, Li
Tang, Ping
Zhou, Chiyan
Wu, Liping
Dong, Jinhua
Chen, Jie
Shen, Huaxiang
author_facet Li, Suping
Jin, Yuxia
Yang, Jing
Yang, Li
Tang, Ping
Zhou, Chiyan
Wu, Liping
Dong, Jinhua
Chen, Jie
Shen, Huaxiang
author_sort Li, Suping
collection PubMed
description BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two syndromes in the Chinese population. RESULTS: We recruited 411 pregnant women who showed either abnormal prenatal ultrasound findings or positive prenatal BoBs™ results or who had given birth to a child with chromosomal abnormalities. SNP-array analysis and interphase FISH analysis identified five fetuses with 22q11.2 copy number variants (CNVs), three of which were 22q11.2 deletion syndrome (22q11.2DS) (3/411) and two of which were 22q11.2 duplication syndrome (22q11.2DupS). In all 5 cases of diagnosed 22q11.2 abnormalities, inheritance could not be identified because the parents did not undergo further testing. CONCLUSION: Our case reports provide a detection rate of 22q11.2 CNVs for fetuses with prenatal diagnostic indications, and early diagnosis of these two syndromes was essential for prenatal intervention in these cases. SNP-array technology is an effective tool in the prenatal diagnosis of 22q11.2 CNVs. The prenatal diagnosis of these two syndromes is helpful for early intervention, which is of great clinical significance.
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spelling pubmed-73465072020-07-14 Prenatal diagnosis of rearrangements in the fetal 22q11.2 region Li, Suping Jin, Yuxia Yang, Jing Yang, Li Tang, Ping Zhou, Chiyan Wu, Liping Dong, Jinhua Chen, Jie Shen, Huaxiang Mol Cytogenet Research BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two syndromes in the Chinese population. RESULTS: We recruited 411 pregnant women who showed either abnormal prenatal ultrasound findings or positive prenatal BoBs™ results or who had given birth to a child with chromosomal abnormalities. SNP-array analysis and interphase FISH analysis identified five fetuses with 22q11.2 copy number variants (CNVs), three of which were 22q11.2 deletion syndrome (22q11.2DS) (3/411) and two of which were 22q11.2 duplication syndrome (22q11.2DupS). In all 5 cases of diagnosed 22q11.2 abnormalities, inheritance could not be identified because the parents did not undergo further testing. CONCLUSION: Our case reports provide a detection rate of 22q11.2 CNVs for fetuses with prenatal diagnostic indications, and early diagnosis of these two syndromes was essential for prenatal intervention in these cases. SNP-array technology is an effective tool in the prenatal diagnosis of 22q11.2 CNVs. The prenatal diagnosis of these two syndromes is helpful for early intervention, which is of great clinical significance. BioMed Central 2020-07-08 /pmc/articles/PMC7346507/ /pubmed/32670410 http://dx.doi.org/10.1186/s13039-020-00498-y 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
Li, Suping
Jin, Yuxia
Yang, Jing
Yang, Li
Tang, Ping
Zhou, Chiyan
Wu, Liping
Dong, Jinhua
Chen, Jie
Shen, Huaxiang
Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
title Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
title_full Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
title_fullStr Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
title_full_unstemmed Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
title_short Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
title_sort prenatal diagnosis of rearrangements in the fetal 22q11.2 region
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7346507/
https://www.ncbi.nlm.nih.gov/pubmed/32670410
http://dx.doi.org/10.1186/s13039-020-00498-y
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