Abstract
OBJECTIVE: To investigate the clinical outcome of fetuses with ventriculomegaly (VM), and to identify risk factors for progression of fetal VM in order to improve prenatal counseling. This was a multicenter, retrospective cohort study, comprising 229 cases with VM. METHODS: VM was classified as mild, moderate, or severe and isolated or non-isolated. Genetic data were collected. Differences between VM subgroups were described, and risk factors for progression of fetal VM were identified using logistic regression analysis. Outcome was defined as the percentage of live births, termination of pregnancy (TOP) and intra-uterine fetal demise (IUFD). RESULTS: Of the 229 cases, 109 (47.6%) had mild VM, 60 (26.2%) moderate VM, and 60 (26.2%) severe VM. Progression of VM occurred in 45/153 cases (29.4%), half of which were in the group with severe VM. Dilatation of the 3rd ventricle and neural tube defects were risk factors for progression of VM. The percentage of live births (excluding cases with TOP and unknown outcome) was 93.1% (54/58) in mild VM, 78.6% (22/28) in moderate VM and 92.6% (25/27) in severe VM. In 12/229 cases (5.2%) IUFD occurred. Genetic analysis was performed in 143/229 (62.4%) of cases, showing (likely) pathogenic abnormalities in 41/143 (28.7%) cases, predominantly in mild, non-isolated VM. CONCLUSIONS: This study confirms the clinical relevance of additional genetic investigations in all types of fetal VMs. Further larger prospective research including clinical follow-up is needed to improve prenatal counseling.