Key clinical point: Diagnostic exome sequencing may enable the characterization of the molecular defects underlying unexplained callosal anomalies (CA) and potentially reduce the number of prenatally undiagnosed cases.
Main finding: A total of 17 pathogenic/likely pathogenic variants in 14 genes from 17 fetuses were identified, with the proportion of diagnostic genetic variants being 34%. Genetic variants were diagnosed in 29.4% and 43.8% of fetuses with isolated and nonisolated CA, respectively.
Study details: This single -center cohort study analyzed 50 fetuses with CA, with (n = 16) or without (n = 34) other structural abnormalities, but with normal karyotyping and chromosomal microarray analysis findings.
Disclosures: The study was sponsored by the National Natural Science Foundation of China, Natural Science Foundation of Guangdong Province, Project of Guangzhou Science and Technology, and Project of Guangdong Medical Science and Technology Research. No conflicts of interest were declared.
Source: Lei TY et al. Prenat Diagn. 2022 (Jan 28). Doi: 10.1002/pd.6107.