Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.

ABSTRACT:

Importance

There are many known acquired risk factors for cerebral palsy (CP), but in some cases, CP is evident without risk factors (cryptogenic CP). Early CP cohort studies report a wide range of diagnostic yields for sequence variants assessed by exome sequencing (ES) and copy number variants (CNVs) assessed by chromosomal microarray (CMA).

Objective

To synthesize the emerging CP genetics literature and address the question of what percentage of individuals with CP have a genetic disorder via ES and CMA.

Data sources

Searched articles were indexed by PubMed with relevant queries pertaining to CP and ES/CMA (query date, March 15, 2022).

Study selection

Inclusion criteria were as follows: primary research study, case series with 10 or more nonrelated individua

SUBMITTER: Srivastava S 

PROVIDER: S-EPMC9593320 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature