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Diagnostic yield of array-CGH in children with suspected rare disease.

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Τίτλος: Diagnostic yield of array-CGH in children with suspected rare disease.
Συγγραφείς: Criado-Muriel MC; University of Salamanca (USAL), GIR of Biomedicine of Rare Diseases, Salamanca, Spain; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain; University of Salamanca (USAL), Department of Biomedical and Diagnostics Science, Salamanca, Spain. Electronic address: mccriado@saludcastillayleon.es., Arroyo-Ruiz R; University of Salamanca (USAL), GIR of Biomedicine of Rare Diseases, Salamanca, Spain; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain; University of Málaga, Faculty of Medicine, Málaga, Spain., Marcos-Vadillo E; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Clinical Biochemistry, Salamanca, Spain., Justel-Rodriguez M; University of Salamanca (USAL), GIR of Biomedicine of Rare Diseases, Salamanca, Spain; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain., Alcubilla-García L; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain., Isidoro-García M; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Clinical Biochemistry, Salamanca, Spain; Clinical Rare Diseases Reference Unit DiERCyL, Castilla y León, Spain; University of Salamanca (USAL), Department of Medicine, Salamanca, Spain., Prieto-Matos P; University of Salamanca (USAL), GIR of Biomedicine of Rare Diseases, Salamanca, Spain; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain; University of Salamanca (USAL), Department of Biomedical and Diagnostics Science, Salamanca, Spain.
Πηγή: Jornal de pediatria [J Pediatr (Rio J)] 2025 Nov-Dec; Vol. 101 (6), pp. 101450. Date of Electronic Publication: 2025 Oct 17.
Τύπος έκδοσης: Journal Article; Observational Study
Γλώσσα: English
Στοιχεία περιοδικού: Publisher: Elsevier Editora Ltd Country of Publication: Brazil NLM ID: 2985188R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1678-4782 (Electronic) Linking ISSN: 00217557 NLM ISO Abbreviation: J Pediatr (Rio J) Subsets: MEDLINE
Imprint Name(s): Publication: Rio de Janeiro, Brazil : Elsevier Editora Ltd
Original Publication: Rio de Janeiro.
Ιατρικοί όροι (MeSH): Rare Diseases*/diagnosis , Rare Diseases*/genetics , Comparative Genomic Hybridization*/methods, DNA Copy Number Variations/genetics ; Humans ; Male ; Female ; Child ; Child, Preschool ; Infant ; Phenotype ; Adolescent
Περίληψη: Objective: This study aims to analyze the diagnostic yield of aCGH in pediatric patients with suspected rare diseases, focusing on its diagnostic value and effectiveness depending on different clinical symptoms.
Methods: This observational study analyzed 600 aCGH tests performed in a pediatric unit (2018-2022) for patients with suspected rare diseases. DNA was extracted from peripheral blood; aCGH resolution was adjusted to clinical features. CNVs were classified per international guidelines. Forty sociodemographic, clinical, and genetic variables were analyzed using IBM SPSS v.26.
Results: Of the 600 patients analyzed, 543 were included in the final study. The median age was 4.7 years (IQR: 6.36 years), and 66.3% were male. Most referrals came from pediatric neurology (84.3%), and the most common clinical manifestations were altered phenotype (38.6%), autism spectrum disorder (ASD) (38.6%), dysmorphia (28.2%), global developmental delay (GDD) (27.1%), and intellectual disability (21.0%). Among 543 patients, 30.4% presented CNVs, with 12.4% identified as pathogenic and 18.1% as variants of uncertain significance. Diagnostic yield was 12.2%, with 66 conclusive results - 90.9% of which were pathogenic. CNVs were most frequently detected on chromosomes 15 and 16. The highest yield was observed in clinical features such as coordination problems (35.7%), learning disorders (28.6%), and microcephaly (22.6%).
Conclusion: The diagnostic yield of aCGH in this study was 12.2%. The test demonstrated higher diagnostic value in patients with multiple clinical manifestations, highlighting the importance of aCGH as a first-line diagnostic tool for rare diseases. This technique enables earlier diagnosis, improves clinical management, and provides better counseling for affected families.
(Copyright © 2025 The Authors. Published by Elsevier España S.L.U. All rights reserved.)
Competing Interests: Conflicts of interest The authors declare no conflicts of interest.
Contributed Indexing: Keywords: Array comparative genomic hybridization; Clinical genetics; Copy number variation; Genetic diagnosis; Pediatric neurology; Rare diseases
Entry Date(s): Date Created: 20250925 Date Completed: 20251206 Latest Revision: 20251218
Update Code: 20260130
PubMed Central ID: PMC12556180
DOI: 10.1016/j.jped.2025.101450
PMID: 40997921
Βάση Δεδομένων: MEDLINE
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  Data: Diagnostic yield of array-CGH in children with suspected rare disease.
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  Data: <searchLink fieldCode="AU" term="%22Criado-Muriel+MC%22">Criado-Muriel MC</searchLink>; University of Salamanca (USAL), GIR of Biomedicine of Rare Diseases, Salamanca, Spain; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain; University of Salamanca (USAL), Department of Biomedical and Diagnostics Science, Salamanca, Spain. Electronic address: mccriado@saludcastillayleon.es.<br /><searchLink fieldCode="AU" term="%22Arroyo-Ruiz+R%22">Arroyo-Ruiz R</searchLink>; University of Salamanca (USAL), GIR of Biomedicine of Rare Diseases, Salamanca, Spain; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain; University of Málaga, Faculty of Medicine, Málaga, Spain.<br /><searchLink fieldCode="AU" term="%22Marcos-Vadillo+E%22">Marcos-Vadillo E</searchLink>; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Clinical Biochemistry, Salamanca, Spain.<br /><searchLink fieldCode="AU" term="%22Justel-Rodriguez+M%22">Justel-Rodriguez M</searchLink>; University of Salamanca (USAL), GIR of Biomedicine of Rare Diseases, Salamanca, Spain; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain.<br /><searchLink fieldCode="AU" term="%22Alcubilla-García+L%22">Alcubilla-García L</searchLink>; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain.<br /><searchLink fieldCode="AU" term="%22Isidoro-García+M%22">Isidoro-García M</searchLink>; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Clinical Biochemistry, Salamanca, Spain; Clinical Rare Diseases Reference Unit DiERCyL, Castilla y León, Spain; University of Salamanca (USAL), Department of Medicine, Salamanca, Spain.<br /><searchLink fieldCode="AU" term="%22Prieto-Matos+P%22">Prieto-Matos P</searchLink>; University of Salamanca (USAL), GIR of Biomedicine of Rare Diseases, Salamanca, Spain; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain; University of Salamanca (USAL), Department of Biomedical and Diagnostics Science, Salamanca, Spain.
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  Data: Objective: This study aims to analyze the diagnostic yield of aCGH in pediatric patients with suspected rare diseases, focusing on its diagnostic value and effectiveness depending on different clinical symptoms.<br />Methods: This observational study analyzed 600 aCGH tests performed in a pediatric unit (2018-2022) for patients with suspected rare diseases. DNA was extracted from peripheral blood; aCGH resolution was adjusted to clinical features. CNVs were classified per international guidelines. Forty sociodemographic, clinical, and genetic variables were analyzed using IBM SPSS v.26.<br />Results: Of the 600 patients analyzed, 543 were included in the final study. The median age was 4.7 years (IQR: 6.36 years), and 66.3% were male. Most referrals came from pediatric neurology (84.3%), and the most common clinical manifestations were altered phenotype (38.6%), autism spectrum disorder (ASD) (38.6%), dysmorphia (28.2%), global developmental delay (GDD) (27.1%), and intellectual disability (21.0%). Among 543 patients, 30.4% presented CNVs, with 12.4% identified as pathogenic and 18.1% as variants of uncertain significance. Diagnostic yield was 12.2%, with 66 conclusive results - 90.9% of which were pathogenic. CNVs were most frequently detected on chromosomes 15 and 16. The highest yield was observed in clinical features such as coordination problems (35.7%), learning disorders (28.6%), and microcephaly (22.6%).<br />Conclusion: The diagnostic yield of aCGH in this study was 12.2%. The test demonstrated higher diagnostic value in patients with multiple clinical manifestations, highlighting the importance of aCGH as a first-line diagnostic tool for rare diseases. This technique enables earlier diagnosis, improves clinical management, and provides better counseling for affected families.<br /> (Copyright © 2025 The Authors. Published by Elsevier España S.L.U. All rights reserved.)
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  Data: Conflicts of interest The authors declare no conflicts of interest.
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