A study published in Frontiers in Genetics examines the genetic basis of prenatal brain anomalies linked to 6q terminal deletions. Researchers evaluated five cases of cerebral dysplasia in a familial context, focusing on genetic diagnosis to enhance prenatal counseling. Data were collected from Gansu Provincial Maternity and Child-care Hospital between January 2017 and April 2024. The study utilized copy number variation sequencing (CNV-Seq) and whole-exome sequencing (WES) to investigate the genomic causes of these anomalies.

All five fetuses showed a smaller-than-expected cerebellar diameter, with four undergoing MRI. CNV-Seq analysis revealed heterozygous deletions at the terminal region of chromosome 6q in four cases, while WES identified an additional deletion in the fifth fetus that CNV-Seq missed. The findings suggest that fetuses with reduced transverse cerebellar diameter and ventriculomegaly should be assessed for 6q terminal deletions involving the gene DLL1. Combining CNV-Seq with WES enhances diagnostic accuracy and supports better genetic counseling for affected families.