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Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China

BACKGROUND: Fetal skeletal dysplasia is a diverse group of degenerative diseases of bone and cartilage disorders that can lead to movement disorder and even death. This study aims to evaluate the diagnostic yield of sonographic examination and genetic testing for fetal skeletal dysplasia. METHODS: F...

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Autores principales: Liu, Wanlu, Cao, Jing, Shi, Xinwei, Li, Yuqi, Qiao, Fuyuan, Wu, Yuanyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10599061/
https://www.ncbi.nlm.nih.gov/pubmed/37875969
http://dx.doi.org/10.1186/s13023-023-02955-4
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author Liu, Wanlu
Cao, Jing
Shi, Xinwei
Li, Yuqi
Qiao, Fuyuan
Wu, Yuanyuan
author_facet Liu, Wanlu
Cao, Jing
Shi, Xinwei
Li, Yuqi
Qiao, Fuyuan
Wu, Yuanyuan
author_sort Liu, Wanlu
collection PubMed
description BACKGROUND: Fetal skeletal dysplasia is a diverse group of degenerative diseases of bone and cartilage disorders that can lead to movement disorder and even death. This study aims to evaluate the diagnostic yield of sonographic examination and genetic testing for fetal skeletal dysplasia. METHODS: From September 2015 to April 2021, the study investigated 24 cases with suspected short-limb fetuses, which were obtained from Tongji Hospital affiliated to Tongji Medical College of Huazhong University of Science and Technology. To identify the causative gene, multiple approaches (including karyotype analysis, copy number variations and whole exome sequencing) were performed on these fetuses. And further segregation analysis of the candidate variant was performed in parents by using Sanger sequencing. RESULTS: ① Out of 24 cases, likely pathogenic variants in FGFR3, FBN2, COL1A2, CUL7 and DYNC2H1 were detected in 6 cases; pathogenic variants in FGFR3, IMPAD1 and GORAB were identified in other 6 cases; and variants in WNT1, FBN1, OBSL1, COL1A1, DYNC2H1 and NEK1, known as Variant of Undetermined Significance, were found in 4 cases. There were no variants detected in the rest 8 cases by the whole exome sequencing. ② Of 24 cases, 12 (50%) were found to carry variants (pathogenic or likely pathogenic) in seven genes with 12 variants. Four fetuses (16.7%) had variants of uncertain significance. CONCLUSION: Genetic testing combining with ultrasound scanning enhances the accurate diagnosis of fatal skeletal dysplasia in utero, and then provides appropriate genetic counseling.
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spelling pubmed-105990612023-10-26 Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China Liu, Wanlu Cao, Jing Shi, Xinwei Li, Yuqi Qiao, Fuyuan Wu, Yuanyuan Orphanet J Rare Dis Research BACKGROUND: Fetal skeletal dysplasia is a diverse group of degenerative diseases of bone and cartilage disorders that can lead to movement disorder and even death. This study aims to evaluate the diagnostic yield of sonographic examination and genetic testing for fetal skeletal dysplasia. METHODS: From September 2015 to April 2021, the study investigated 24 cases with suspected short-limb fetuses, which were obtained from Tongji Hospital affiliated to Tongji Medical College of Huazhong University of Science and Technology. To identify the causative gene, multiple approaches (including karyotype analysis, copy number variations and whole exome sequencing) were performed on these fetuses. And further segregation analysis of the candidate variant was performed in parents by using Sanger sequencing. RESULTS: ① Out of 24 cases, likely pathogenic variants in FGFR3, FBN2, COL1A2, CUL7 and DYNC2H1 were detected in 6 cases; pathogenic variants in FGFR3, IMPAD1 and GORAB were identified in other 6 cases; and variants in WNT1, FBN1, OBSL1, COL1A1, DYNC2H1 and NEK1, known as Variant of Undetermined Significance, were found in 4 cases. There were no variants detected in the rest 8 cases by the whole exome sequencing. ② Of 24 cases, 12 (50%) were found to carry variants (pathogenic or likely pathogenic) in seven genes with 12 variants. Four fetuses (16.7%) had variants of uncertain significance. CONCLUSION: Genetic testing combining with ultrasound scanning enhances the accurate diagnosis of fatal skeletal dysplasia in utero, and then provides appropriate genetic counseling. BioMed Central 2023-10-25 /pmc/articles/PMC10599061/ /pubmed/37875969 http://dx.doi.org/10.1186/s13023-023-02955-4 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This 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/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://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
Liu, Wanlu
Cao, Jing
Shi, Xinwei
Li, Yuqi
Qiao, Fuyuan
Wu, Yuanyuan
Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China
title Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China
title_full Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China
title_fullStr Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China
title_full_unstemmed Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China
title_short Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China
title_sort genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in wuhan, china
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10599061/
https://www.ncbi.nlm.nih.gov/pubmed/37875969
http://dx.doi.org/10.1186/s13023-023-02955-4
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