Comprehensive analysis of fetal corpus callosum pathologies: a retrospective comparative study of agenesis and dysplasia
Abstract
Aims: To evaluate prenatal imaging findings, associated structural abnormalities, genetic testing results, and neonatal outcomes in fetuses with corpus callosum anomalies, and to compare corpus callosum dysplasia with agenesis.
Methods: This retrospective cross-sectional study included 42 pregnancies complicated by fetal corpus callosum anomalies: 24 cases of corpus callosum dysplasia and 18 cases of corpus callosum agenesis. Prenatal ultrasonographic findings, fetal magnetic resonance imaging (MRI) findings, invasive prenatal genetic testing results, associated structural abnormalities, and neonatal outcomes were evaluated retrospectively.
Results: Associated structural abnormalities on prenatal ultrasonography were observed in 83.3% of the dysplasia group and in all fetuses in the agenesis group (p=0.122). Ventriculomegaly-related abnormalities were the most common associated findings in both groups. Colpocephaly, interhemispheric cysts, facial anomalies, and multisystem structural abnormalities were more prominent in the agenesis group. Fetal MRI findings mainly included cavum septi pellucidi abnormalities, ventriculomegaly, and colpocephaly. Prenatal genetic evaluation identified abnormalities involving genes such as L1CAM, FGFR1, and KIF7. The agenesis group had lower birth weights and higher neonatal intensive care unit admission rates compared with the dysplasia group.
Conclusion: Fetuses with corpus callosum agenesis showed a tendency toward a more severe phenotypic spectrum, with more associated structural abnormalities and less favorable neonatal characteristics compared with fetuses with corpus callosum dysplasia. Comprehensive prenatal evaluation that integrates neurosonography, fetal MRI, and genetic testing is essential for accurate characterization and prognostic counseling in fetal corpus callosum anomalies.
Keywords
Supporting Institution
The study received no financial support.
Project Number
AEŞH–BAD56EK2-2025-538
Ethical Statement
Ethics committee approval was obtained from the Ethics Committee of Etlik City Hospital (Decision No: AEŞH–BAD56EK2-2025-538). The study was conducted in accordance with the Declaration of Helsinki.
Thanks
Not applicable.
References
- Paul LK, Brown WS, Adolphs R, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci. 2007;8(4):287-299. doi:10.1038/nrn2107
- Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 2014;137(Pt 6):1579-1613. doi:10.1093/brain/awt358
- Glass HC, Shaw GM, Ma C, Sherr EH. Agenesis of the corpus callosum in California 1983-2003: a population-based study. Am J Med Genet A. 2008;146A(19):2495-2500. doi:10.1002/ajmg.a.32418
- Santo S, D'Antonio F, Homfray T, et al. Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 2012;40(5): 513-521. doi:10.1002/uog.12315
- Volpe P, Paladini D, Resta M, et al. Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus. Ultrasound Obstet Gynecol. 2006;27(5):509-516. doi:10.1002/uog.2774
- Bedeschi MF, Bonaglia MC, Grasso R, et al. Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. Pediatr Neurol. 2006;34(3):186-193. doi:10.1016/j.pediatrneurol.2005.08.008
- Paladini D, Malinger G, Birnbaum R, et al. ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 2: performance of targeted neurosonography. Ultrasound Obstet Gynecol. 2021;57(4):661-671. doi:10.1002/uog.23616 Erratum in: Ultrasound Obstet Gynecol. 2022;60(4):591. doi:10.1002/uog.26067
- Ghi T, Carletti A, Contro E, et al. Prenatal diagnosis and outcome of partial agenesis and hypoplasia of the corpus callosum. Ultrasound Obstet Gynecol. 2010;35(1):35-41. doi:10.1002/uog.7489
Details
Primary Language
English
Subjects
Obstetrics and Gynaecology
Journal Section
Research Article
Publication Date
September 11, 2026
Submission Date
May 25, 2026
Acceptance Date
August 3, 2026
Published in Issue
Year 2026 Volume: 8 Number: 5
APA
Öztürk, Ö., Yılmaz Ergani, S., Sümer, D., & Yakut Yücel, K. (2026). Comprehensive analysis of fetal corpus callosum pathologies: a retrospective comparative study of agenesis and dysplasia. Anatolian Current Medical Journal, 8(5), 1003-1008. https://izlik.org/JA76BT84KP
AMA
1.Öztürk Ö, Yılmaz Ergani S, Sümer D, Yakut Yücel K. Comprehensive analysis of fetal corpus callosum pathologies: a retrospective comparative study of agenesis and dysplasia. Anatolian Curr Med J / ACMJ / acmj. 2026;8(5):1003-1008. https://izlik.org/JA76BT84KP
Chicago
Öztürk, Özge, Seval Yılmaz Ergani, Dinçer Sümer, and Kadriye Yakut Yücel. 2026. “Comprehensive Analysis of Fetal Corpus Callosum Pathologies: A Retrospective Comparative Study of Agenesis and Dysplasia”. Anatolian Current Medical Journal 8 (5): 1003-8. https://izlik.org/JA76BT84KP.
EndNote
Öztürk Ö, Yılmaz Ergani S, Sümer D, Yakut Yücel K (September 1, 2026) Comprehensive analysis of fetal corpus callosum pathologies: a retrospective comparative study of agenesis and dysplasia. Anatolian Current Medical Journal 8 5 1003–1008.
IEEE
[1]Ö. Öztürk, S. Yılmaz Ergani, D. Sümer, and K. Yakut Yücel, “Comprehensive analysis of fetal corpus callosum pathologies: a retrospective comparative study of agenesis and dysplasia”, Anatolian Curr Med J / ACMJ / acmj, vol. 8, no. 5, pp. 1003–1008, Sept. 2026, [Online]. Available: https://izlik.org/JA76BT84KP
ISNAD
Öztürk, Özge - Yılmaz Ergani, Seval - Sümer, Dinçer - Yakut Yücel, Kadriye. “Comprehensive Analysis of Fetal Corpus Callosum Pathologies: A Retrospective Comparative Study of Agenesis and Dysplasia”. Anatolian Current Medical Journal 8/5 (September 1, 2026): 1003-1008. https://izlik.org/JA76BT84KP.
JAMA
1.Öztürk Ö, Yılmaz Ergani S, Sümer D, Yakut Yücel K. Comprehensive analysis of fetal corpus callosum pathologies: a retrospective comparative study of agenesis and dysplasia. Anatolian Curr Med J / ACMJ / acmj. 2026;8:1003–1008.
MLA
Öztürk, Özge, et al. “Comprehensive Analysis of Fetal Corpus Callosum Pathologies: A Retrospective Comparative Study of Agenesis and Dysplasia”. Anatolian Current Medical Journal, vol. 8, no. 5, Sept. 2026, pp. 1003-8, https://izlik.org/JA76BT84KP.
Vancouver
1.Özge Öztürk, Seval Yılmaz Ergani, Dinçer Sümer, Kadriye Yakut Yücel. Comprehensive analysis of fetal corpus callosum pathologies: a retrospective comparative study of agenesis and dysplasia. Anatolian Curr Med J / ACMJ / acmj [Internet]. 2026 Sep. 1;8(5):1003-8. Available from: https://izlik.org/JA76BT84KP
