The diagnostic yield of CGH and WES in neurodevelopmental disorders
BackgroundNeurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods of diagnosis and treatment of these conditions are complicated, and their treatment involves a combination of various forms of therapy. In recent ye...
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Frontiers Media S.A.
2023-03-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1133789/full |
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| author | Raniah S. Alotibi Raniah S. Alotibi Naif S. Sannan Naif S. Sannan Mariam AlEissa Mariam AlEissa Marwh G. Aldriwesh Marwh G. Aldriwesh Abeer Al Tuwaijri Abeer Al Tuwaijri Maaged A. Akiel Maaged A. Akiel Mashael Almutairi Alhanouf Alsamer Nouf Altharawi Ghadah Aljawfan Badi Alotiabi Badi Alotiabi Mohammed A. AlBlawi Mohammed A. AlBlawi Mohammed A. AlBlawi Ahmed Alfares Ahmed Alfares Ahmed Alfares Ahmed Alfares |
| author_facet | Raniah S. Alotibi Raniah S. Alotibi Naif S. Sannan Naif S. Sannan Mariam AlEissa Mariam AlEissa Marwh G. Aldriwesh Marwh G. Aldriwesh Abeer Al Tuwaijri Abeer Al Tuwaijri Maaged A. Akiel Maaged A. Akiel Mashael Almutairi Alhanouf Alsamer Nouf Altharawi Ghadah Aljawfan Badi Alotiabi Badi Alotiabi Mohammed A. AlBlawi Mohammed A. AlBlawi Mohammed A. AlBlawi Ahmed Alfares Ahmed Alfares Ahmed Alfares Ahmed Alfares |
| author_sort | Raniah S. Alotibi |
| collection | DOAJ |
| description | BackgroundNeurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods of diagnosis and treatment of these conditions are complicated, and their treatment involves a combination of various forms of therapy. In recent years, the development of high-resolution technologies has played an important role in revealing the microdeletions, microduplications, and single-nucleotide variants of the chromosomes and how they are linked to the development of neurodevelopmental disorders. The wide implementation and application of molecular methodologies have started to shed light on the functional importance of using the appropriate methods in detecting these genetic variations that are categorized as either pathogenic or benign. The study aimed to compare the diagnostic yield of comparative hybridization (CGH) and whole exome sequencing (WES) in neurodevelopmental disorders among children attending the King Abdullah Specialist Children Hospital, Riyadh, Saudi Arabia.MethodsA retrospective study was conducted between 2015 and 2018 on 105 patients diagnosed with neurodevelopmental disorders through array-based CGH (Array-CGH) and WES.ResultsIn a sample of 105 patients, 16% was the hit rate of copy number variations (CNVs). WES was requested for CNV-negative patients (n = 79), of which 30% was the hit rate of pathogenic or likely pathogenic single-nucleotide variants. There was a difference in the diagnostic yield between CGH (16%) and WES (30%).ConclusionWES was a better approach than Array-CGH to detect various DNA mutations or variants. Our findings could guide clinicians, researchers, and testing laboratories select the most cost-effective and appropriate approach for diagnosing their patients. |
| first_indexed | 2024-04-10T06:32:18Z |
| format | Article |
| id | doaj.art-d00ea30db7dd4a65928be8f0a12d717f |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-10T06:32:18Z |
| publishDate | 2023-03-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Pediatrics |
| spelling | doaj.art-d00ea30db7dd4a65928be8f0a12d717f2023-03-01T06:22:39ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-03-011110.3389/fped.2023.11337891133789The diagnostic yield of CGH and WES in neurodevelopmental disordersRaniah S. Alotibi0Raniah S. Alotibi1Naif S. Sannan2Naif S. Sannan3Mariam AlEissa4Mariam AlEissa5Marwh G. Aldriwesh6Marwh G. Aldriwesh7Abeer Al Tuwaijri8Abeer Al Tuwaijri9Maaged A. Akiel10Maaged A. Akiel11Mashael Almutairi12Alhanouf Alsamer13Nouf Altharawi14Ghadah Aljawfan15Badi Alotiabi16Badi Alotiabi17Mohammed A. AlBlawi18Mohammed A. AlBlawi19Mohammed A. AlBlawi20Ahmed Alfares21Ahmed Alfares22Ahmed Alfares23Ahmed Alfares24Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi ArabiaKing Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi ArabiaKing Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi ArabiaDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Jeddah, Saudi ArabiaDepartment of Molecular Genetics, Public Health Laboratory, Public Health Authority, Riyadh, Saudi ArabiaCollege of Medicine, Alfaisal University, Riyadh, Saudi ArabiaDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi ArabiaKing Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi ArabiaDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi ArabiaMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi ArabiaDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi ArabiaKing Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi ArabiaDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi ArabiaDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi ArabiaDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi ArabiaDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi ArabiaDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi ArabiaKing Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi ArabiaKing Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi ArabiaDepartment of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi ArabiaCollege of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi ArabiaKing Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi ArabiaDepartment of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi ArabiaCenter for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia0Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi ArabiaBackgroundNeurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods of diagnosis and treatment of these conditions are complicated, and their treatment involves a combination of various forms of therapy. In recent years, the development of high-resolution technologies has played an important role in revealing the microdeletions, microduplications, and single-nucleotide variants of the chromosomes and how they are linked to the development of neurodevelopmental disorders. The wide implementation and application of molecular methodologies have started to shed light on the functional importance of using the appropriate methods in detecting these genetic variations that are categorized as either pathogenic or benign. The study aimed to compare the diagnostic yield of comparative hybridization (CGH) and whole exome sequencing (WES) in neurodevelopmental disorders among children attending the King Abdullah Specialist Children Hospital, Riyadh, Saudi Arabia.MethodsA retrospective study was conducted between 2015 and 2018 on 105 patients diagnosed with neurodevelopmental disorders through array-based CGH (Array-CGH) and WES.ResultsIn a sample of 105 patients, 16% was the hit rate of copy number variations (CNVs). WES was requested for CNV-negative patients (n = 79), of which 30% was the hit rate of pathogenic or likely pathogenic single-nucleotide variants. There was a difference in the diagnostic yield between CGH (16%) and WES (30%).ConclusionWES was a better approach than Array-CGH to detect various DNA mutations or variants. Our findings could guide clinicians, researchers, and testing laboratories select the most cost-effective and appropriate approach for diagnosing their patients.https://www.frontiersin.org/articles/10.3389/fped.2023.1133789/fullarray-based comparative hybridization (Array-CGH)whole exome sequencing (WES)copy number variations (CNVs)single-nucleotide variants (SNVs)neurodevelopmental disorders (NDDs) |
| spellingShingle | Raniah S. Alotibi Raniah S. Alotibi Naif S. Sannan Naif S. Sannan Mariam AlEissa Mariam AlEissa Marwh G. Aldriwesh Marwh G. Aldriwesh Abeer Al Tuwaijri Abeer Al Tuwaijri Maaged A. Akiel Maaged A. Akiel Mashael Almutairi Alhanouf Alsamer Nouf Altharawi Ghadah Aljawfan Badi Alotiabi Badi Alotiabi Mohammed A. AlBlawi Mohammed A. AlBlawi Mohammed A. AlBlawi Ahmed Alfares Ahmed Alfares Ahmed Alfares Ahmed Alfares The diagnostic yield of CGH and WES in neurodevelopmental disorders Frontiers in Pediatrics array-based comparative hybridization (Array-CGH) whole exome sequencing (WES) copy number variations (CNVs) single-nucleotide variants (SNVs) neurodevelopmental disorders (NDDs) |
| title | The diagnostic yield of CGH and WES in neurodevelopmental disorders |
| title_full | The diagnostic yield of CGH and WES in neurodevelopmental disorders |
| title_fullStr | The diagnostic yield of CGH and WES in neurodevelopmental disorders |
| title_full_unstemmed | The diagnostic yield of CGH and WES in neurodevelopmental disorders |
| title_short | The diagnostic yield of CGH and WES in neurodevelopmental disorders |
| title_sort | diagnostic yield of cgh and wes in neurodevelopmental disorders |
| topic | array-based comparative hybridization (Array-CGH) whole exome sequencing (WES) copy number variations (CNVs) single-nucleotide variants (SNVs) neurodevelopmental disorders (NDDs) |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1133789/full |
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