Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement?
Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement?
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DOI：
10.1007/s10803-011-1398-3
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发表时间：
2012-08-01
影响因子：
3.9
通讯作者：
Veenstra-VanderWeele, Jeremy
中科院分区：
文献类型：
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作者：
McGrew, Susan G.;Peters, Brittany R.;Veenstra-VanderWeele, Jeremy
遗传学检测被推荐用于ASD患者;然而，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X DNA。美国医学遗传学学院推荐使用染色体微阵列分析（CMA）。我们确定了CMA（N = 85），核型（N = 119）和脆性X（N = 174）测试在初级儿科自闭症实践的产量。我们发现20例（24%）患者CMA结果异常（8例具有临床意义），3例核型异常和1例脆性X综合征。CMA结果与认知水平、癫痫发作、畸形、先天畸形或行为无相关性。我们的结论是，CMA应该是所有专业的ASD第一层基因检测的临床标准。
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.