Diagnostic Profile of Corpus Callosum Anomalies at a Tertiary Center: A Retrospective Cross-sectional Study

ABS TRACT Objective: This study aimed to define the frequency and type of additional accompanying anomalies in cases with various anomalies of the corpus callosum (ACCs) in our tertiary center in the last 8 years. Material and Methods: This retrospective cross-sectional study included the data of 152 cases of prenatally diagnosed ACCs in a tertiary referral center between October 2012 and November 2020. We evaluated central nervous system and other organ system structural abnormalities, chromosomal abnormalities, and syndromes accompanying in non-isolated forms. Results: During the study period, a total of 152 cases with callosal anomaly were diagnosed throughout the study course in a population of 117,450 live births, resulting in an overall prevalence of 12.9 per 10,000 live births. Of the 152 cases ascer-tained, 105 (69%) were total agenesis, 38 (25%) were partial agenesis, and 9 (6%) were hypoplasia of the corpus callosum. Of these 152 cases, 80 (52.6%) had isolated ACC and the remaining 72 (47.4%) cases had at least one associated anomaly, including chromosomal anomalies, recognized syndromes, and multiple congenital abnormalities. Conclusion: ACCs are clinically and etiologically heterogeneous, and prenatal diagnosis is possible. Even in isolated cases, the neurodevelopmental prognosis is uncertain and mostly associated with other structural abnormalities, chromosomal and genetic diseases. Due to the underlying etiological cause, accompanying additional anomalies and un- certainty regarding developmental outcomes, chromosomal, syndromic, and additional structural disorders may be clues in antenatal ultrasonographic observation in ACC cases should be investigated with the more detailed sonographic examination and genetic tests.