Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement?

自闭症初级保健实践中染色体微阵列分析的诊断率 ： 实施哪些指南 ？

• 影响指数: 4.345
• 发表时间: Aug 2012
• 来源期刊: J Autism Dev Disord
• DOI: 10.1007/s10803-011-1398-3
• PMID: 22089167
• 文章类型: Journal Article
• 作者列表: McGrew SG,Peters BR,Crittendon JA,Veenstra-Vanderweele J

Mesh: Adolescent; Child; Child Development Disorders, Pervasive / diagnosis genetics; Child, Preschool; Chromosome Banding; DNA; Fragile X Syndrome / diagnosis genetics; Genetic Testing / methods; Humans; Karyotyping; Microarray Analysis; Pediatrics; Practice Guidelines as Topic; Primary Health Care

Abstract

Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of CMA (N = 85), karyotype (N = 119), and fragile X (N = 174) testing in a primary pediatrics autism practice. We found twenty (24%) patients with abnormal CMA results (eight were clinically significant), three abnormal karyotypes and one Fragile X syndrome. There was no relationship between CMA result and cognitive level, seizures, dysmorphology, congenital malformations or behavior. We conclude that CMA should be the clinical standard in all specialties for first tier genetic testing in ASD.

摘要

建议对ASD患者进行基因检测;但是具体的建议因专业而异。美国儿科学会和美国神经病学学会指南推荐G带核型和脆性XDNA。美国医学遗传学学会推荐染色体微阵列分析(CMA)。我们确定了CMA的产率（N=85），核型（N=119），和脆弱的X（N=174）测试在初级儿科自闭症实践。我们发现20例（24%）CMA结果异常的患者（8例具有临床意义），三个异常核型和一个脆性X综合征。CMA结果与认知水平之间没有关系，癫痫发作,形态学,先天性畸形或行为。我们得出的结论是，CMA应成为ASD中所有专业的一线基因检测的临床标准。