Corpus Callosum Anomalies: Prenatal Diagnosis, Genetic Findings, and Perinatal Outcomes

Authors

Tuğçe Arslanoğlu, Sezin Uludağ, Deniz Kanber Açar, Alev Ateş Aydın
  • Tuğçe Arslanoğlu (Author) Department of Perinatology, University of Health Sciences, Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Türkiye https://orcid.org/0000-0003-1755-1274
  • Sezin Uludağ (Author) Department of Perinatology, University of Health Sciences, Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Türkiye https://orcid.org/0000-0002-9209-9065
  • Deniz Kanber Açar (Author) Department of Perinatology, University of Health Sciences, Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Türkiye https://orcid.org/0000-0001-8072-2262
  • Alev Ateş Aydın (Author) Department of Perinatology, University of Health Sciences, Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Türkiye https://orcid.org/0000-0002-8504-5755
https://doi.org/10.18621/eurj.1830453
Objectives: The aim of this study was to evaluate the subtype distribution of prenatally diagnosed corpus callosum (CC) anomalies. We also assessed associated central nervous system (CNS) and extracranial anomalies, genetic findings, perinatal outcomes, and the contribution of ultrasonography and fetal MRI to prenatal diagnosis.
Methods: This retrospective, single-center study was conducted in a tertiary perinatology clinic between 2016 and 2025. A total of 124 fetuses with prenatally diagnosed CC anomalies were included. Diagnosis was based on obstetric ultrasound, and fetal magnetic resonance imaging (MRI) was performed when ultrasound findings were inconclusive. Cases were classified by subtype, and associated CNS or extracranial anomalies, genetic test results, and pregnancy outcomes were recorded.
Results: The study included 124 fetuses diagnosed with CC anomalies during the prenatal period. The mean gestational age at diagnosis was 26.6±4.7 weeks. Pregnancy resulted in termination in 67.7% of cases and live birth in 32.3%. In cases that ended in termination, diagnosis and delivery occurred at earlier gestational weeks, and birth weights were lower. Additional anomalies were present in 42.7% of cases, most commonly involving the central nervous system and the heart. Complete CC agenesis was the most frequent subtype (54%). Genetic testing was more often performed in the termination group and identified chromosomal abnormalities such as trisomy 18, trisomy 13, and 22q11 deletion. Fetal MRI was performed in 45 cases, confirming the ultrasound diagnosis in 36 and leading to diagnostic revision in 9 cases.
Conclusions: This study summarizes our experience in the evaluation of pregnancies diagnosed with CC anomalies. In our cohort, prognosis was mainly influenced by whether the anomaly was isolated, along with fetal MRI and genetic test findings. Overall, our approach was similar to that reported in the literature. Nevertheless, each case required individual assessment, and counseling was adjusted according to the clinical findings.
Corpus Callosum Anomalies, Fetal MRI, Prenatal Neurosonography, Genetic Anomalies, Perinatal Outcome

1. Bartek V, Szabó I, Harmath Á, et al. Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up. Children (Basel). 2024;11(7):797. doi: 10.3390/children11070797.

2. Huang R, Chen J, Hou X, et al. Retrospective analysis of the prognostic factors of fetal corpus callosum dysplasia. BMC Pregnancy Childbirth. 2024;24(1):101. doi: 10.1186/s12884-024-06300-w.

3. Tsai P, Shinar S. Agenesis of the corpus callosum: What to tell expecting parents? Prenat Diagn. 2023;43(12):1527-1535. doi: 10.1002/pd.6447.

4. Siffredi V, Anderson V, Leventer RJ, Spencer-Smith MM. Neuropsychological profile of agenesis of the corpus callosum: a systematic review. Dev Neuropsychol. 2013;38(1):36-57. doi: 10.1080/87565641.2012.721421.

5. Sun H, Li K, Wang L, et al. Fetal agenesis of the corpus callosum: Clinical and genetic analysis in a series of 40 patients. Eur J Obstet Gynecol Reprod Biol. 2024;298:146-152. doi: 10.1016/j.ejogrb.2024.05.005.

6. Corroenne R, Paladini D, Papastefanou I, et al; Collaborators. Prenatal evaluation, diagnosis and management of fetal corpus callosal abnormalities: international Delphi consensus. Ultrasound Obstet Gynecol. 2025;66(5):582-588. doi: 10.1002/uog.70003.

7. Shakes P, Cashin A, Hurley J. Scoping Review of the Prenatal Diagnosis of Agenesis of the Corpus Callosum. J Obstet Gynecol Neonatal Nurs. 2020;49(5):423-436. doi: 10.1016/j.jogn.2020.06.003.

8. Rollins NK. Diffusion imaging of the congenitally thickened corpus callosum. AJNR Am J Neuroradiol. 2013;34(3):660-665. doi: 10.3174/ajnr.A3245.

9. Glenn OA, Barkovich AJ. Magnetic resonance imaging of the fetal brain and spine: An increasingly important tool in prenatal diagnosis. Part 2. AJNR Am J Neuroradiol. 2006;27(9):1807-1814.

10. Tang PH, Bartha AI, Norton ME, Barkovich AJ, Sherr EH, Glenn OA. Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. AJNR Am J Neuroradiol. 2009;30(2):257-263. doi: 10.3174/ajnr.A1331.

11. Sileo FG, Di Mascio D, Rizzo G, et al. Role of prenatal magnetic resonance imaging in fetuses with isolated agenesis of corpus callosum in the era of fetal neurosonography: A systematic review and meta-analysis. Acta Obstet Gynecol Scand. 2021;100(1):7-16. doi: 10.1111/aogs.13958.

12. 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):1861-93. doi: 10.1016/j.pediatrneurol.2005.08.008.

13. Zhou C, Li H, Han R, et al. Partial agenesis of the corpus callosum: Prenatal ultrasound characteristics, associations, and outcome. Acta Obstet Gynecol Scand. 2025;104(7):1304-1317. doi: 10.1111/aogs.15121.

14. Mustafa HJ, Barbera JP, Sambatur EV, et al. Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2024;63(3):312-320. doi: 10.1002/uog.27440.

15. 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):2495-500. doi: 10.1002/ajmg.a.32418.

16. de Wit MC, Boekhorst F, Mancini GM, et al. Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound. Prenat Diagn. 2017;37(12):1191-1197. doi: 10.1002/pd.5158.

17. Arslanoğlu T, Alpay V, Özyılmaz İ. Prenatal diagnosis and postnatal outcomes of absent pulmonary valve syndrome: A case series with genetic and hemodynamic insights. Eur Res J. 2025;11(6):1108-1116. doi:10.18621/eurj.1741967.

There are 17 references in total.
1.
Arslanoğlu T, Uludağ S, Açar DK, Ateş Aydın A. Corpus Callosum Anomalies: Prenatal Diagnosis, Genetic Findings, and Perinatal Outcomes. Eur Res J. 2026;12(3):289-296. doi:10.18621/eurj.1830453

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