Süt Hasan, Yıldız Gülşah Aynaoğlu
Department of Obstetrics and Gynaecology, Ankara University Faculty of Medicine, Mamak, Ankara, RI, 06590, Turkey.
BMC Pregnancy Childbirth. 2025 Mar 8;25(1):260. doi: 10.1186/s12884-025-07357-x.
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.
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.
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.
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.
This study was retrospectively registered and authorized by the local Ethics Committee of Ankara University (clinical trial date 06.06.2024/ number 1391402).
我们旨在回顾我校诊断和管理的胼胝体发育不全（CCA）病例，通过揭示CCA的产前和产后结局，为有关这种产前诊断的胎儿颅脑异常的文献提供资料。
这项回顾性横断面研究检查了2012年至2021年期间在我们诊所检测到的CCA。还计算了基因检测结果、伴随的其他异常、终止妊娠情况和围产期死亡率。通过调查产后孤立性CCA和非孤立性CCA病例的运动发育、认知发育、行为障碍、语言延迟、个人社交发育迟缓以及癫痫情况，揭示神经发育结局。
研究期间评估了30例胎儿的数据。孤立性CCA和非孤立性CCA病例数分别为11例（37.5%）和19例（62.5%），部分CCA和完全CCA病例数分别为8例（26%）和22例（74%）。在这30例胎儿中，活产、染色体异常、围产期死亡和终止妊娠的病例数分别为14例（47%）、3例（10%）、3例（10%）和13例（43%）。对14名儿童进行了产后评估，其中5名（35.7%）观察到正常的神经发育结局。所有这些儿童均来自孤立性CCA组。此外，37.5%的孤立性CCA患儿检测到神经发育结局不良。
如果在胎儿中检测到CCA，应进行额外的超声异常检查和基因检测，以区分孤立性CCA和非孤立性CCA。虽然可以通过告知非孤立性CCA妊娠结局不良向家庭提供终止妊娠的选择，但孤立性CCA的咨询仍存在矛盾，需要更全面的前瞻性研究。
本研究经安卡拉大学当地伦理委员会回顾性注册并批准（临床试验日期：2024年6月6日/编号1391402）。
