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How should antenatal counseling be given to parents in the fetal corpus callosum agenesis?
Hasan Süt1, Gülşah Aynaoğlu Yıldız2
1Department of Obstetrics and Gynaecology, Ankara University Faculty of Medicine, Mamak, Ankara, RI, 06590, Turkey. hassann0@gmail.com.
Insights
Agenesis of the corpus callosum (CCA) is a fetal anomaly with varied outcomes. Non-isolated CCA often leads to poor pregnancy results, while isolated CCA shows mixed neurodevelopmental results, necessitating further research.
Area of Science:
- Fetal Medicine
- Neuroscience
- Genetics
Background:
- Corpus callosum agenesis (CCA) is a significant antenatal diagnosis.
- Understanding antenatal and postnatal outcomes is crucial for management.
- This study reviews CCA cases managed at a university clinic.
Purpose of the Study:
- To analyze antenatal and postnatal outcomes of fetal corpus callosum agenesis.
- To differentiate outcomes between isolated and non-isolated CCA.
- To inform clinical management and genetic counseling.
Main Methods:
- Retrospective and cross-sectional study of CCA cases (2012-2021).
- Evaluation of genetic results, additional anomalies, termination, and mortality rates.
- Postnatal neurodevelopmental assessment (motor, cognitive, behavioral, speech, personal-social, epilepsy).
Main Results:
- 30 fetuses with CCA were analyzed; 62.5% were non-isolated and 74% were complete.
- 43% of cases underwent termination, 10% had perinatal mortality, and 47% resulted in live births.
- Among 14 children with postnatal follow-up, 35.7% had normal neurodevelopment (all isolated CCA), while 37.5% of isolated CCA cases had poor outcomes.
Conclusions:
- Fetal CCA diagnosis requires further ultrasonographic and genetic evaluation.
- Non-isolated CCA is associated with poor pregnancy outcomes, suggesting termination counseling.
- Counseling for isolated CCA is complex, requiring more prospective research.
Background:
We aimed to review the corpus callosum agenesis (CCA) cases diagnosed and managed in our University to contribute to the literature about this antenatally diagnosed fetal cranial anomaly by revealing the antenatal and postnatal outcomes of CCA.
Methods:
This retrospective and cross-sectional study examined CCA detected in our clinic between 2012 and 2021. Genetic results, accompanying additional anomalies, termination, and perinatal mortality rates were also calculated. Neurodevelopmental outcomes were revealed by investigating motor development, cognitive development, behavioral disorder, speech delay, personal-social backwardness, and epilepsy in cases of isolated CCA and non-isolated CCA in the postnatal period.
Results:
Data from 30 fetuses were evaluated during the study. The number of isolated CCA and non-isolated CCA cases is 11 (37.5%) and 19 (62.5%), respectively, and the number of partial CCA and complete CCA cases is 8 (26%) and 22 (74%), respectively. Among the 30 fetuses, the numbers of live births, chromosomal anomalies, perinatal mortalities, and terminations were found to be 14 (47%), 3 (10%), 3 (10%), and 13 (43%), respectively. Postnatal evaluation was performed in 14 children, and normal neurodevelopmental outcomes were observed in 5 (35.7%). All these children were from the isolated CCA group. Additionally, poor neurodevelopmental outcome was detected in 37.5% of isolated CCA.
Conclusion:
If CCA is detected in the fetus, additional ultrasonographic anomaly and genetic examination should be performed to differentiate isolated CCA from non-isolated CCA. While the termination option can be offered to the family by informing them about poor pregnancy outcomes in non-isolated CCA, counseling in isolated CCA remains contradictory, and more comprehensive prospective studies are needed.
Trial Registration:
This study was retrospectively registered and authorized by the local Ethics Committee of Ankara University (clinical trial date 06.06.2024/ number 1391402).
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