Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature

作者：Qing Li, Zefu Chen, Jie Wang, Kexin Xu, Xin Fan, Chunxiu Gong, Zhihong Wu, Jianguo Zhang, Nan Wu · 发表于：Archives of Pediatrics and Adolescent Medicine · 年份：2023 · DOI：10.1001/jamapediatrics.2023.3566 · 被引用次数：16 · 研究领域：Genomic variations and chromosomal abnormalities、Genomics and Rare Diseases、Genetic Associations and Epidemiology

Importance: Currently, the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) for short stature cohorts is uncertain. Despite previous studies reporting the widespread use of ES and CMA, a definitive diagnostic yield has not been established. Objective: To investigate the diagnostic yield of ES and CMA in short stature. Data Sources: A systematic literature search was conducted using relevant keywords in 3 databases (PubMed, Embase, and Web of Science) in February 2023. Study Selection: Eligible studies for meta-analysis were those that had at least 10 participants with short stature who were diagnosed using either ES or CMA and the number of diagnosed patients was reported. Of 5222 identified studies, 20 were eventually included in the study. Data Extraction and Synthesis: Two independent investigators extracted relevant information from each study, which was then synthesized using proportional meta-analysis to obtain the overall diagnostic yield of ES and CMA. Main Outcomes and Measures: The primary outcome measure was to determine the overall diagnostic yield of ES and CMA. A subgroup meta-analysis was also performed to assess if the diagnostic yield varied depending on whether ES was used as a first-tier or last-resort test. Additionally, a meta-regression was carried out to investigate how the diagnostic yield varied over time. Results: Twenty studies were included, comprising 1350 patients with short stature who underwent ES and 1070 pat...