Introduction: The corpus callosum is one of the five main cerebral commissures. It
is key to combining sensory and motor functions. Its structure can be pathological
(dysgenesis) or completely absent (agenesis). The corpus callosum dys- or agenesis
is a rare disease (1:4000 live births), but it can have serious mental effects. Methods:
In our study, we processed the data of 64 pregnant women. They attended a prenatal
diagnostic center and genetic counseling from 2005 to 2019 at the Department of Obstetrics
and Gynecology at Semmelweis University. Results: The pregnancies had the following
outcomes: 52 ended in delivery, 1 in spontaneous abortion, and 11 in termination of
pregnancy (TOP) cases (n = 64). The average time of detection with imaging tests was
25.24 gestational weeks. In 16 cases, prenatal magnetic resonance imaging (MRI) was
performed. If the abnormality was detected before the 20th week, a genetic test was
performed on an amniotic fluid sample obtained from a genetic amniocentesis. Karyotyping
and cytogenetic tests were performed in 15 of the investigated cases. Karyotyping
gave normal results in three cases (46,XX or XY). In one of these cases, postnatally
chromosomal microarray (CMA) was later performed, which confirmed Aicardi syndrome
(3q21.3–21.1 microdeletion). In one case, postnatally, the test found Wiedemann–Rautenstrauch
syndrome. In other cases, it found X ring, Di George syndrome, 46,XY,del(13q)(q13q22)
and 46,XX,del(5p)(p13) (Cri-du-chat syndrome). Edwards syndrome was diagnosed in six
cases, and Patau syndrome in one case. Conclusions: We found that corpus callosum
abnormalities are often linked to chromosomal problems. We recommend that a cytogenetic
test be performed in all cases to rule out inherited diseases. Also, the long-term
outcome does not just depend on the disease’s severity and the associated other conditions,
and hence proper follow-up and early development are also key. For this reason, close
teamwork between neonatology, developmental neurology, and pediatric surgery is vital.
