Academic Journal
Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.
| Τίτλος: | Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis. |
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| Συγγραφείς: | Tengsujaritkul M; Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand., Louthrenoo O; Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand., Likhitweerawong N; Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand., Boonchooduang N; Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand., Srisurapanont M; Department of Psychiatry, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand. |
| Πηγή: | Annals of medicine [Ann Med] 2026 Dec; Vol. 58 (1), pp. 2609424. Date of Electronic Publication: 2025 Dec 30. |
| Τύπος έκδοσης: | Journal Article; Meta-Analysis; Systematic Review; Research Support, Non-U.S. Gov't |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 8906388 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2060 (Electronic) Linking ISSN: 07853890 NLM ISO Abbreviation: Ann Med Subsets: MEDLINE |
| Imprint Name(s): | Publication: London : Informa Healthcare Original Publication: Helsinki : Finnish Medical Society Duodecim, 1989- |
| Ιατρικοί όροι (MeSH): | Exome Sequencing*/methods , Exome Sequencing*/statistics & numerical data , Developmental Disabilities*/genetics , Developmental Disabilities*/diagnosis , Intellectual Disability*/genetics , Intellectual Disability*/diagnosis , Genetic Testing*/methods , Microarray Analysis*/methods, Whole Genome Sequencing/methods ; Humans ; Child ; Male ; Female |
| Περίληψη: | Background: Global developmental delay/intellectual disability (GDD/ID) is among the most common neurodevelopmental disorders, with up to half of cases are attributed to genetic factors. Chromosome microarray (CMA) has traditionally been the primary genetic test for idiopathic GDD/ID. However, whole exome sequencing (WES) and whole genome sequencing (WGS) have recently emerged, substantially increasing diagnostic yields in these populations. Methods: We conducted a comprehensive literature search of PubMed, Scopus, EMBASE, and the Cochrane Library from inception to April 29, 2025. Studies reporting the diagnostic utility of these tests in children with GDD/ID were included and analyzed. Results: A total of 102 studies, comprising 55,752 children, were reviewed. The pooled diagnostic yield of WES was 0.37 (95% CI: 0.33-0.41; I2 = 93%), significantly higher than that of CMA at 0.19 (95% CI: 0.16-0.21; I2 = 95%). Subgroup analyses showed that WES yielded significantly higher diagnostic rates than CMA in both same-sample comparisons (OR = 2.27, 95% CI: 1.08-4.78) and different-sample comparisons (OR = 1.65, 95% CI: 1.15-2.37). Only one study evaluated WGS, reporting a diagnostic yield of 0.27. Meta-regression revealed a significant association between CMA diagnostic yield and the proportion of male participants (p < 0.01), but not with WES. No significant difference in diagnostic utility was observed between isolated GDD/ID and GDD/ID with comorbidities. Conclusion: In children with unexplained GDD/ID, WES demonstrates superior diagnostic and clinical utility compared to CMA. Incorporating WES as a first-line investigation in the diagnostic evaluation of GDD/ID may be warranted. |
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| Contributed Indexing: | Keywords: Diagnostic yield; exome sequencing; genetic testing; global developmental delay; intellectual disability Local Abstract: [plain-language-summary] The pooled diagnostic yield of whole exome sequencing (WES) was 0.37 (95% CI: 0.33–0.41), significantly higher than that of chromosomal microarray (CMA) at 0.19 (95% CI: 0.16–0.21) in children with global developmental delay/intellectual disability (GDD/ID).No significant difference in diagnostic utility was observed between isolated GDD/ID and GDD/ID with comorbidities.WES may be warranted as a first-line investigation in the diagnostic evaluation of GDD/ID. |
| Entry Date(s): | Date Created: 20251231 Date Completed: 20251231 Latest Revision: 20260926 |
| Update Code: | 20260926 |
| PubMed Central ID: | PMC12777888 |
| DOI: | 10.1080/07853890.2025.2609424 |
| PMID: | 41472336 |
| Βάση Δεδομένων: | MEDLINE |
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