[Correlation between fetal borderline ventriculomegaly and chromosomal abnormalities]

Area of Science:

• Prenatal Diagnosis
• Fetal Medicine
• Genetics

Background:

• Borderline ventriculomegaly (VM) is a finding in prenatal ultrasound.
• The association between borderline VM and chromosomal abnormalities requires further investigation.
• Accurate risk assessment is crucial for appropriate management.

Purpose of the Study:

• To evaluate the link between fetal borderline VM diagnosed prenatally and chromosomal abnormalities.
• To analyze the detection rates of chromosomal abnormalities in different subgroups of borderline VM.

Main Methods:

• Retrospective analysis of 129 cases with borderline VM diagnosed via prenatal ultrasound.
• Classification into isolated VM, VM with no additional structural abnormality, and VM with structural abnormality groups.
• Chromosomal Microarray (CMA) analysis for detecting chromosomal abnormalities.

Main Results:

• Overall, 6.2% (8/129) of borderline VM cases showed chromosomal abnormalities (2 abnormal karyotypes, 6 pathogenic copy number variations).
• Detection rates varied across groups: 5.0% in isolated VM, 11.1% in VM with no additional structural abnormality, and 4.5% in VM with structural abnormality.
• No statistically significant difference in chromosomal abnormality detection rates was observed among the three groups (P > 0.05).

Conclusions:

• Fetal borderline VM increases the risk of chromosomal abnormalities.
• Comprehensive ultrasound scanning and regular follow-up are essential when borderline VM is detected.
• Fetal chromosome examination is recommended for fetuses with borderline VM.