ArticleJournal of clinical laboratory analysis2026
Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns.
Article in Journal of clinical laboratory analysis, 2026. 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
introductionIn South Korea, low-resolution chromosomal microarray analysis (LR-CMA) is frequently used as a screening tool to identify chromosomal anomalies in asymptomatic newborns. However, its clinical utility remains controversial.
methodsWe retrospectively analyzed 99 asymptomatic newborns who underwent diagnostic CMA following abnormal LR-CMA screening results at a single tertiary hospital between 2019 and 2024. Clinical features, copy number variant (CNV) findings, and follow-up outcomes were assessed.
resultsAmong the 99 patients (57.6% male), the median ages at the initial and last visits were 0.3 and 1.0 years, respectively. A total of 171 CNVs were identified, of which 85 (49.7%) were classified as pathogenic or likely pathogenic. Overall, 70 of 99 (70.7%) patients harbored microduplication or deletions with syndromic implications. Developmental delay was identified in 10 (10.1%) patients. Notably, no significant associations were found between CNV pathogenicity and prenatal history, presence of anomalies, developmental delays, or growth parameters.
conclusionsAlthough a high rate of clinically significant CNVs was detected through LR-CMA screening, only a minority of asymptomatic newborns exhibited developmental concerns within the observed follow-up period. These findings suggest that while LR-CMA may identify genetic alterations of interest, its routine use in asymptomatic newborns warrants careful consideration of clinical relevance and potential psychosocial impact.
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