Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.

ABSTRACT:

Importance

Exome sequencing (ES) has been established as the preferred first line of diagnostic testing for certain neurodevelopmental disorders, such as global developmental delay and autism spectrum disorder; however, current recommendations are not specific to or inclusive of congenital hydrocephalus (CH).

Objective

To determine the diagnostic yield of ES in CH and whether ES should be considered as a first line diagnostic test for CH.

Data sources

PubMed, Cochrane Library, and Google Scholar were used to identify studies published in English between January 1, 2010, and April 10, 2023. The following search terms were used to identify studies: congenital hydrocephalus, ventriculomegaly, cerebral ventriculomegaly, primary ventriculomegaly, fetal ventriculomegaly, pr

SUBMITTER: Greenberg ABW 

PROVIDER: S-EPMC10665979 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature