ArticleScientific reports2025
Clinical application of CNV-seq for diagnosing abnormal brain development in children.
Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
The current study evaluates the diagnostic utility of copy number variation sequencing (CNV-Seq) in elucidating the genetic etiology of abnormal brain development (ABD) in pediatric patients. We analyzed 130 children diagnosed with ABD at Gansu Maternity and Child-care Hospital between December 2018 and October 2023. Patients were categorized into non-syndromic (NS-ABD) and syndromic (S-ABD) groups, and CNV-Seq was performed to identify chromosomal aneuploidies and copy number variations (CNVs). Of the 130 cases, 42 (32.3%) exhibited genetic abnormalities, comprising 3 aneuploidies (2.3%; 2 trisomy 21, 1 trisomy 18) and 39 CNVs (30%). In the NS-ABD group (n = 15), abnormalities included 1 aneuploidy (6.7%), 4 pathogenic CNVs (pCNVs; 26.7%), and 10 variants of uncertain significance (VUS; 66.7%). The S-ABD group (n = 27) showed 2 aneuploidies (7.4%), 19 pCNVs (70.4%), and 6 VUS (22.2%). Chi-square analysis confirmed a significantly higher pCNV detection rate in the S-ABD group compared to the NS-ABD group (χ² = 40.03, P < 0.001). CNV-Seq demonstrates a high diagnostic yield for ABD, particularly in S-ABD patients, where the detection rate of pCNVs is significantly elevated. NS-ABD patients, with subtler clinical phenotypes and lower positive detection rates, are at risk of underdiagnosis in clinical practice. Increased attention to NS-ABD cases, alongside timely prenatal diagnosis and genetic counseling, is essential to improve clinical outcomes.
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