Trends in Multidisciplinary Research

Background: Ventriculomegaly (VM) is one of the most common abnormality detected by perinatal scans, and it is characterized by lateral ventricular enlargement with an atrial width of _10 mm, which can be visualized during second-trimester imaging. This entity can be associated with brain abnormalities and other malformations. In order to perform good prenatal counseling, the prenatal ultrasound diagnosis as well as the fetal autopsy additional findings are essential. Aim: The retrospective observational study aimed to assess the correlation between prenatal ultrasound and autopsy findings during the second trimester (fetuses from 12 to 28 weeks of gestation) due to VM and its related structural abnormalities. Objective: Our study included 35 fetal autopsy cases over a 2-year period following a fetal loss that occurred from elective terminations and spontaneous expulsions and was chosen for comparison. The cases were classified according to the degree of agreement on diagnostic performance at the level of various organ systems and specific malformations. An extensive perinatal autopsy protocol comprising external examination and internal examination of aborted fetuses with corresponding ultrasound imaging was studied. Cases were classified according to VM etiology as malformative, obstructive, destructive, syndromic or chromosomal, along with the presence of central nervous system (CNS) or extra-CNS abnormalities. The study is intended for compatibility with prenatal ultrasound findings and postmortem results to determine underlying reasons. Results: Of the cases, three had isolated VM, 54% of cases had central nervous system abnormalities and 29% of fetuses had extra-brain deformities; in addition, cerebellar hypoplasia (n = 11 cases), corpus callosum anomaly (n = 13 fetuses) and the absence of cavum septum pellucidum (10 cases) were also observed. Autopsy revealed additional abnormalities; which was not picked up on imaging, including rhombencephalosynapsis and cytomegalovirus (CMV) inclusions. Diagnostic concordance between ultrasound and autopsy was good for central nervous system abnormalities (82%), but poor for gastrointestinal (60%), cardiovascular (63%), and syndromic abnormalities (38%). Conclusion: This work emphasizes the convergence of prenatal imaging with postmortem fetal assessment such that to improve overall understanding of perinatal fetal assessment in different organ systems and their related anomalies. VM can be noticed by perinatal scans. However, the Fetopathological examination was essential for final report findings. Combining these two approaches significantly improve the understanding of etiology, diagnostic precision, and planning for genetic counseling for the pregnancies that are affected.