Research Article

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

Volume: 12 Number: 3 March 1, 2026

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

Abstract

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.

Keywords

Ethical Statement

This study was approved by the University of Health Sciences İstanbul Kanuni Sultan Süleyman Training and Research Hospital Scientific Research Ethics Committee (Decision No: KAEK/2025.07.177; date: 03.07.2025). All procedures were conducted in accordance with the ethical standards of the institutional and national research committee and with the 1964 Helsinki Declaration and its later amendments. Informed consent was waived because of the retrospective nature of the study and the analysis used anonymous clinical data.

References

  1. 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. 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. 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. 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. 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. 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. 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. 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.

Details

Primary Language

English

Subjects

Obstetrics and Gynaecology

Journal Section

Research Article

Early Pub Date

January 3, 2026

Publication Date

March 1, 2026

Submission Date

November 25, 2025

Acceptance Date

December 28, 2025

Published in Issue

Year 2026 Volume: 12 Number: 3

APA
Arslanoğlu, T., Uludağ, S., Açar, D. K., & Ateş Aydın, A. (2026). Corpus Callosum Anomalies: Prenatal Diagnosis, Genetic Findings, and Perinatal Outcomes. The European Research Journal, 12(3), 289-296. https://doi.org/10.18621/eurj.1830453
AMA
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
Chicago
Arslanoğlu, Tuğçe, Sezin Uludağ, Deniz Kanber Açar, and Alev Ateş Aydın. 2026. “Corpus Callosum Anomalies: Prenatal Diagnosis, Genetic Findings, and Perinatal Outcomes”. The European Research Journal 12 (3): 289-96. https://doi.org/10.18621/eurj.1830453.
EndNote
Arslanoğlu T, Uludağ S, Açar DK, Ateş Aydın A (March 1, 2026) Corpus Callosum Anomalies: Prenatal Diagnosis, Genetic Findings, and Perinatal Outcomes. The European Research Journal 12 3 289–296.
IEEE
[1]T. Arslanoğlu, S. Uludağ, D. K. Açar, and A. Ateş Aydın, “Corpus Callosum Anomalies: Prenatal Diagnosis, Genetic Findings, and Perinatal Outcomes”, Eur Res J, vol. 12, no. 3, pp. 289–296, Mar. 2026, doi: 10.18621/eurj.1830453.
ISNAD
Arslanoğlu, Tuğçe - Uludağ, Sezin - Açar, Deniz Kanber - Ateş Aydın, Alev. “Corpus Callosum Anomalies: Prenatal Diagnosis, Genetic Findings, and Perinatal Outcomes”. The European Research Journal 12/3 (March 1, 2026): 289-296. https://doi.org/10.18621/eurj.1830453.
JAMA
1.Arslanoğlu T, Uludağ S, Açar DK, Ateş Aydın A. Corpus Callosum Anomalies: Prenatal Diagnosis, Genetic Findings, and Perinatal Outcomes. Eur Res J. 2026;12:289–296.
MLA
Arslanoğlu, Tuğçe, et al. “Corpus Callosum Anomalies: Prenatal Diagnosis, Genetic Findings, and Perinatal Outcomes”. The European Research Journal, vol. 12, no. 3, Mar. 2026, pp. 289-96, doi:10.18621/eurj.1830453.
Vancouver
1.Tuğçe Arslanoğlu, Sezin Uludağ, Deniz Kanber Açar, Alev Ateş Aydın. Corpus Callosum Anomalies: Prenatal Diagnosis, Genetic Findings, and Perinatal Outcomes. Eur Res J. 2026 Mar. 1;12(3):289-96. doi:10.18621/eurj.1830453