Diagnostic Yield of Chromosomal Microarray and Trio Whole-Exome Sequencing in Cryptogenic Cerebral Palsy

Cerebral palsy (CP) is a permanent movement disorder caused by non-progressive abnormalities of the developing brain, occuring approximately one in 500 live births. In most, CP is associated with prematurity and asphyxia, but in about a third of patients there is no apparent cause. The goal of this project was to evaluate the diagnostic yields of microarray (CMA) and trio whole exome sequencing (WES) for individuals with unexplained CP and to identify differences in yield based on clinical features of the patients. We tested 45 patient-parents trios with unexplained CP, and found clinically significant genetic findings for 58% of patients (26/45), 8 large copy number variants (CNVs) detected by CMA and 18 point mutations detected by trio WES. we concluded, that Genomic analysis has a high yield and is warranted in all these patients. Trio WES has higher yield than CMA, but these methods are complementary. (By Dr. Reeval Segel, https://jmg.bmj.com/content/early/2021/07/28/jmedgenet-2021-107884 )

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