{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T03:24:14Z","timestamp":1791343454899,"version":"4.3.1"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,8,31]]},"DOI":"10.7759\/cureus.115483","type":"journal-article","created":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T08:55:42Z","timestamp":1788166542000},"source":"Crossref","is-referenced-by-count":1,"title":["Diagnostic Yield and Clinical Utility of Chromosomal Microarray Analysis (CMA) in Children With Developmental Delay, Intellectual Disability, and Autism Spectrum Disorder: A Systematic Review"],"prefix":"10.7759","author":[{"given":"Muna Omer","family":"Abdelgayoum Ahmed","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Einas Abdelmoneim","family":"Khiri Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarra Elnour","family":"Ahmed Elnour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arafa MohamedAhmed","family":"Mohamed Elamin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hagar Elhag","family":"Mohamed Elamin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahar Ali Osman","family":"Mohamed Elawad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nermin Ezat","family":"Elbakry Abdelmahdy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aliaa Salah","family":"Alquhazi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3999","article-title":"Genetic studies in intellectual disability and related disorders","volume":"17","author":"Vissers LE","year":"2016","unstructured":"Vissers LE, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders. Nat Rev Genet. 2016, 17:9-18. 10.1038\/nrg3999","journal-title":"Nat Rev Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2019-0811","article-title":"Prevalence and trends of developmental disabilities among children in the United States: 2009-2017","volume":"144","author":"Zablotsky B","year":"2019","unstructured":"Zablotsky B, Black LI, Maenner MJ, et al.. Prevalence and trends of developmental disabilities among children in the United States: 2009-2017. Pediatrics. 2019, 144:e20190811. 10.1542\/peds.2019-0811","journal-title":"Pediatrics"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2014-1839","article-title":"Comprehensive evaluation of the child with intellectual disability or global developmental delays","volume":"134","author":"Moeschler JB","year":"2014","unstructured":"Moeschler JB, Shevell M. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014, 134:e903-18. 10.1542\/peds.2014-1839","journal-title":"Pediatrics"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller DT","year":"2010","unstructured":"Miller DT, Adam MP, Aradhya S, et al.. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010, 86:749-64. 10.1016\/j.ajhg.2010.04.006","journal-title":"Am J Hum Genet"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0686-8","article-title":"Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)","volume":"22","author":"Riggs ER","year":"2020","unstructured":"Riggs ER, Andersen EF, Cherry AM, et al.. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020, 22:245-57. 10.1038\/s41436-019-0686-8","journal-title":"Genet Med"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1200395","article-title":"Phenotypic heterogeneity of genomic disorders and rare copy-number variants","volume":"367","author":"Girirajan S","year":"2012","unstructured":"Girirajan S, Rosenfeld JA, Coe BP, et al.. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med. 2012, 367:1321-31. 10.1056\/NEJMoa1200395","journal-title":"N Engl J Med"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0554-6","article-title":"Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders","volume":"21","author":"Srivastava S","year":"2019","unstructured":"Srivastava S, Love-Nichols JA, Dies KA, et al.. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019, 21:2413-21. 10.1038\/s41436-019-0554-6","journal-title":"Genet Med"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01242-6","article-title":"Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)","volume":"23","author":"Manickam K","year":"2021","unstructured":"Manickam K, McClain MR, Demmer LA, et al.. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021, 23:2029-37. 10.1038\/s41436-021-01242-6","journal-title":"Genet Med"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1080\/07853890.2025.2609424","article-title":"Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD\/iD: a meta-analysis","volume":"58","author":"Tengsujaritkul M","year":"2026","unstructured":"Tengsujaritkul M, Louthrenoo O, Likhitweerawong N, Boonchooduang N, Srisurapanont M. Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD\/iD: a meta-analysis. Ann Med. 2026, 58:2609424. 10.1080\/07853890.2025.2609424","journal-title":"Ann Med"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.n71","article-title":"The PRISMA 2020 statement: an updated guideline for reporting systematic reviews","volume":"372","author":"Page MJ","year":"2021","unstructured":"Page MJ, McKenzie JE, Bossuyt PM, et al.. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. BMJ. 2021, 372:n71. 10.1136\/bmj.n71","journal-title":"BMJ"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1186\/s12913-014-0579-0","article-title":"PICO, PICOS and SPIDER: a comparison study of specificity and sensitivity in three search tools for qualitative systematic reviews","volume":"14","author":"Methley AM","year":"2014","unstructured":"Methley AM, Campbell S, Chew-Graham C, McNally R, Cheraghi-Sohi S. PICO, PICOS and SPIDER: a comparison study of specificity and sensitivity in three search tools for qualitative systematic reviews. BMC Health Serv Res. 2014, 14:579. 10.1186\/s12913-014-0579-0","journal-title":"BMC Health Serv Res"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.11124\/JBISRIR-D-19-00099","article-title":"Methodological quality of case series studies: an introduction to the JBI critical appraisal tool","volume":"18","author":"Munn Z","year":"2020","unstructured":"Munn Z, Barker TH, Moola S, et al.. Methodological quality of case series studies: an introduction to the JBI critical appraisal tool. JBI Evid Synth. 2020, 18:2127-33. 10.11124\/JBISRIR-D-19-00099","journal-title":"JBI Evid Synth"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.690493","article-title":"Chromosomal microarray in children with developmental delay: the experience of a tertiary center in Korea","volume":"9","author":"Yang EH","year":"2021","unstructured":"Yang EH, Shin YB, Choi SH, et al.. Chromosomal microarray in children with developmental delay: the experience of a tertiary center in Korea. Front Pediatr. 2021, 9:690493. 10.3389\/fped.2021.690493","journal-title":"Front Pediatr"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-021-00271-z","article-title":"Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay","volume":"7","author":"Liu Y","year":"2022","unstructured":"Liu Y, Lv Y, Zarrei M, et al.. Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay. NPJ Genom Med. 2022, 7:1. 10.1038\/s41525-021-00271-z","journal-title":"NPJ Genom Med"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-022-19274-6","article-title":"Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil","volume":"12","author":"Krepischi AC","year":"2022","unstructured":"Krepischi AC, Villela D, da Costa SS, et al.. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. Sci Rep. 2022, 12:15184. 10.1038\/s41598-022-19274-6","journal-title":"Sci Rep"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.24441","article-title":"Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients","volume":"36","author":"Perovic D","year":"2022","unstructured":"Perovic D, Damnjanovic T, Jekic B, et al.. Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients. J Clin Lab Anal. 2022, 36:e24441. 10.1002\/jcla.24441","journal-title":"J Clin Lab Anal"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-022-00623-z","article-title":"Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort","volume":"15","author":"Lengyel A","year":"2022","unstructured":"Lengyel A, Pinti \u00c9, Pik\u00f3 H, et al.. Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort. Mol Cytogenet. 2022, 15:47. 10.1186\/s13039-022-00623-z","journal-title":"Mol Cytogenet"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-022-01397-1","article-title":"Copy number variation analysis in 189 Romanian patients with global developmental delay\/intellectual disability","volume":"48","author":"Miclea D","year":"2022","unstructured":"Miclea D, Osan S, Bucerzan S, et al.. Copy number variation analysis in 189 Romanian patients with global developmental delay\/intellectual disability. Ital J Pediatr. 2022, 48:207. 10.1186\/s13052-022-01397-1","journal-title":"Ital J Pediatr"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics12123137","article-title":"Pathogenic copy number variations involved in the genetic etiology of syndromic and non-syndromic intellectual disability-data from a Romanian cohort","volume":"12","author":"Strea\u021b\u0103 I","year":"2022","unstructured":"Strea\u021b\u0103 I, Caramizaru A, Riza AL, et al.. Pathogenic copy number variations involved in the genetic etiology of syndromic and non-syndromic intellectual disability-data from a Romanian cohort. Diagnostics (Basel). 2022, 12:3137. 10.3390\/diagnostics12123137","journal-title":"Diagnostics (Basel)"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1080\/15513815.2020.1791292","article-title":"Utility of chromosomal microarray in children with unexplained developmental delay\/intellectual disability","volume":"41","author":"Kamath V","year":"2022","unstructured":"Kamath V, Yoganathan S, Thomas MM, Gowri M, Chacko MP. Utility of chromosomal microarray in children with unexplained developmental delay\/intellectual disability. Fetal Pediatr Pathol. 2022, 41:208-18. 10.1080\/15513815.2020.1791292","journal-title":"Fetal Pediatr Pathol"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2182","article-title":"Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder","volume":"11","author":"Cucinotta F","year":"2023","unstructured":"Cucinotta F, Lintas C, Tomaiuolo P, et al.. Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder. Mol Genet Genomic Med. 2023, 11:e2182. 10.1002\/mgg3.2182","journal-title":"Mol Genet Genomic Med"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-024-54385-2","article-title":"A cohort study of neurodevelopmental disorders and\/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD","volume":"14","author":"Chaves TF","year":"2024","unstructured":"Chaves TF, Ocampos M, Barbato IT, et al.. A cohort study of neurodevelopmental disorders and\/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD. Sci Rep. 2024, 14:3762. 10.1038\/s41598-024-54385-2","journal-title":"Sci Rep"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1007\/s11033-024-09545-y","article-title":"Diagnostic yield of the chromosomal microarray analysis in Turkish patients with unexplained development delay\/intellectual disability(ID), autism spectrum disorders and\/or multiple congenital anomalies and new clinical findings","volume":"51","author":"Akkus N","year":"2024","unstructured":"Akkus N, Cubuk PO. Diagnostic yield of the chromosomal microarray analysis in Turkish patients with unexplained development delay\/intellectual disability(ID), autism spectrum disorders and\/or multiple congenital anomalies and new clinical findings. Mol Biol Rep. 2024, 51:577. 10.1007\/s11033-024-09545-y","journal-title":"Mol Biol Rep"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-025-05519-5","article-title":"Diagnostic yield of chromosomal microarray analysis in a cohort of 300 Indian patients","volume":"93","author":"Lall MB","year":"2026","unstructured":"Lall MB, Joshi A, Agarwal S, et al.. Diagnostic yield of chromosomal microarray analysis in a cohort of 300 Indian patients. Indian J Pediatr. 2026, 93:36-47. 10.1007\/s12098-025-05519-5","journal-title":"Indian J Pediatr"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1159\/000549248","article-title":"Diagnostic utility of chromosomal microarray analysis in a Turkish pediatric cohort: insights from 1,022 patients with neurodevelopmental disorders and congenital anomalies","volume":"166","author":"Sanri A","year":"2026","unstructured":"Sanri A, Mutlu MB, Sezer O. Diagnostic utility of chromosomal microarray analysis in a Turkish pediatric cohort: insights from 1,022 patients with neurodevelopmental disorders and congenital anomalies. Cytogenet Genome Res. 2026, 166:144-77. 10.1159\/000549248","journal-title":"Cytogenet Genome Res"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1016\/j.compbiolchem.2024.108254","article-title":"Multi-omics data integration and analysis pipeline for precision medicine: systematic review","volume":"113","author":"Abdelaziz EH","year":"2024","unstructured":"Abdelaziz EH, Ismail R, Mabrouk MS, Amin E. Multi-omics data integration and analysis pipeline for precision medicine: systematic review. Comput Biol Chem. 2024, 113:108254. 10.1016\/j.compbiolchem.2024.108254","journal-title":"Comput Biol Chem"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-biodatasci-102523-103801","article-title":"Harnessing artificial intelligence in multimodal omics data integration: paving the path for the next frontier in precision medicine","volume":"7","author":"Nam Y","year":"2024","unstructured":"Nam Y, Kim J, Jung SH, et al.. Harnessing artificial intelligence in multimodal omics data integration: paving the path for the next frontier in precision medicine. Annu Rev Biomed Data Sci. 2024, 7:225-50. 10.1146\/annurev-biodatasci-102523-103801","journal-title":"Annu Rev Biomed Data Sci"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.5114\/pm.2024.141092","article-title":"Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities","volume":"23","author":"Moradi B","year":"2024","unstructured":"Moradi B, Bahrami A, Vafaei SM, et al.. Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities. Prz Menopauzalny. 2024, 23:94-108. 10.5114\/pm.2024.141092","journal-title":"Prz Menopauzalny"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31821dd54a","article-title":"Chromosomal microarray testing influences medical management","volume":"13","author":"Coulter ME","year":"2011","unstructured":"Coulter ME, Miller DT, Harris DJ, et al.. Chromosomal microarray testing influences medical management. Genet Med. 2011, 13:770-6. 10.1097\/GIM.0b013e31821dd54a","journal-title":"Genet Med"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0109629","article-title":"The clinical impact of chromosomal microarray on paediatric care in Hong Kong","volume":"9","author":"Tao VQ","year":"2014","unstructured":"Tao VQ, Chan KY, Chu YW, et al.. The clinical impact of chromosomal microarray on paediatric care in Hong Kong. PLoS One. 2014, 9:e109629. 10.1371\/journal.pone.0109629","journal-title":"PLoS One"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccell.2022.08.011","article-title":"Clinical application of advanced multi-omics tumor profiling: shaping precision oncology of the future","volume":"40","author":"Akhoundova D","year":"2022","unstructured":"Akhoundova D, Rubin MA. Clinical application of advanced multi-omics tumor profiling: shaping precision oncology of the future. Cancer Cell. 2022, 40:920-38. 10.1016\/j.ccell.2022.08.011","journal-title":"Cancer Cell"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/521899-diagnostic-yield-and-clinical-utility-of-chromosomal-microarray-analysis-cma-in-children-with-developmental-delay-intellectual-disability-and-autism-spectrum-disorder-a-systematic-review","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T08:55:43Z","timestamp":1788166543000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/521899-diagnostic-yield-and-clinical-utility-of-chromosomal-microarray-analysis-cma-in-children-with-developmental-delay-intellectual-disability-and-autism-spectrum-disorder-a-systematic-review"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,31]]},"references-count":31,"URL":"https:\/\/doi.org\/10.7759\/cureus.115483","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2026,8,31]]}}}