Researchers at Shanxi Children’s Hospital studied 73 fetuses diagnosed with ventriculomegaly (abnormal enlargement of fluid-filled brain cavities) between 2020 and 2023, using two types of genetic sequencing to find underlying causes. Chromosomal abnormalities were found in about 31% of cases, while whole exome sequencing of the remaining fetuses uncovered single-gene defects in nearly half, including a variant in POGZ. In total, 10 previously unreported genetic variants were identified, highlighting the genetic complexity behind this condition. The findings underscore the value of comprehensive genetic testing in fetuses with ventriculomegaly to guide family counseling and birth defect prevention.