PhD Scientific Days 2025

Poster Session III. - R: Neurosciences

Corpus Callosum Abnormalities: Prenatal Detection and Genetic Correlations in a 14-Year Cohort

Name of the presenter

Bartek Virág

Institute/workplace of the presenter

Semmelweis University Department of Obstetrics and Gynecology

Authors

Virág Bartek Dr.¹, Artúr Beke Dr. PhD. Med. Habil.¹, István Szabó Dr. PhD.¹, Ágnes Harmath Dr. PhD.¹, Gábor Rudas Dr. PhD.², Tidhar Steiner Dr.¹, Attila Fintha Dr. PhD.³, Nándor Ács Prof. Dr. PhD. Head of Department¹

1: Semmelweis University Department of Obstetrics and Gynecology
2: Heim Pál National Pediatric Institute
3: Semmelweis University Department of Pathology and Experimental Cancer Research

Text of the abstract

Introduction: The corpus callosum is one of the five main cerebral commissures, and its main function is to combine sensory and motor functions. The structure can be pathological (dysgenesis) or completely absent (agenesis). Malformation of the corpus callosum is a rare condition (1 in 4,000 live births), but it can have significant neurological effects.
Aims: Our goal was to determine what prenatal signs of corpus callosum abnormalities are and whether they can predict prognosis.
Methods: In our retrospective 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. Long-term (3 years) follow-up was performed in 20 cases.
Results: The outcomes of the pregnancies are the following: 52 ended in delivery, 1 in spontaneous abortion, and 11 in termination of pregnancy (TOP). The average time of detection with imaging tests was 25.24 gestational weeks. Prenatal magnetic resonance imaging (MRI) was performed in 16 cases. If it was possible, a genetic test was performed on an amniotic fluid sample obtained from a genetic amniocentesis. 15 cases went under karyotyping and cytogenetic tests. Normal results were obtained 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. Other findings were 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. Cytogenetic test is recommended to be performed in all cases. Also, the long-term outcome does not just depend on the disease's severity and the associated other conditions, proper follow-up and early development are also key. Because of that, close teamwork between neonatology, developmental neurology, and pediatric surgery is vital.
Funding: This research received no external funding.