Zhou Changrong, Li Hezhou, Han Ruizheng, Ren Hongrui, Shen Bin, Wang Xinxia, Feng Fangfang, Wang Mengmeng, Liu Ling
Department of Ultrasound, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Department of Radiology, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Acta Obstet Gynecol Scand. 2025 Jul;104(7):1304-1317. doi: 10.1111/aogs.15121. Epub 2025 Apr 16.
To investigate prenatal ultrasound characteristics, associated abnormalities, and outcomes of partial agenesis of the corpus callosum (pACC).
A total of 118 fetuses with pACC diagnosed using prenatal ultrasound were studied, and their prenatal ultrasound characteristics, associated abnormalities, genetics, and outcomes were collected. The fetuses were categorized into three groups according to gestational age: <24 weeks, 24-28 weeks, and >28 weeks, and the brain transverse plane ultrasound signs were compared among the three groups.
Prenatal ultrasound revealed the presence of abnormal cavum septi pellucidi (CSP), distention of the interhemispheric fissure (IF), dilated and elevated third ventricle (TV), and ventriculomegaly in 102 (86.4%), 91 (77.1%), 56 (47.4%), and 42 (35.6%) cases, respectively, in the transverse plane of the brain. Among the cases with dilatation and elevation of the TV, 38 (67.8%) showed posterior displacement, manifested by a cystic mass in the midline that communicated with the TV. There were statistically significant differences in the incidence of ventriculomegaly and abnormal CSP among the three groups at <24 weeks, 24-28 weeks, and >28 weeks. However, there were no statistically significant differences in the distention of the IF and TV among the three groups. Moreover, our cohort studies demonstrated that 32.2% (38/118), 18.6% (22/118), and 17.8% (21/118) of the cases were associated with intracranial, extracranial, and intra-extracranial anomalies, respectively. The most common intracranial and extracranial anomalies were cerebral cortical dysplasia and cardiovascular anomalies. Genetic analysis demonstrated that 37.8% (17/41) of patients had genetic abnormalities. 25% (4/16) and 52% (13/25) of isolated and non-isolated pACC cases showed genetic abnormalities. Eight isolated cases were born, with an average age of 28 months, and their neurological development was normal.
Abnormal CSP was the most common indirect sign of pACC. A cystic mass in the midline communicating with the TV can be another indirect sign of a pACC. pACC is likely to be accompanied by intracranial and extracranial abnormalities. The detection rate of genetic abnormalities was higher in non-isolated pACC cases than in isolated cases. Isolated pACC has a good prognosis but requires long-term follow-up of neurological development.
探讨胼胝体部分发育不全（pACC）的产前超声特征、相关异常及结局。
对118例经产前超声诊断为pACC的胎儿进行研究，收集其产前超声特征、相关异常、遗传学及结局。根据孕周将胎儿分为三组：<24周、24 - 28周和>28周，比较三组间脑横切面超声征象。
产前超声显示，在脑横切面上，102例（86.4%）、91例（77.1%）、56例（47.4%）和42例（35.6%）分别存在透明隔腔（CSP）异常、半球间裂（IF）增宽、第三脑室（TV）扩张并上抬以及脑室扩大。在TV扩张并上抬的病例中，38例（67.8%）表现为向后移位，表现为中线处与TV相通的囊性肿块。<24周、24 - 28周和>28周三组间脑室扩大和CSP异常的发生率存在统计学差异。然而，三组间IF和TV增宽情况无统计学差异。此外，我们的队列研究表明，分别有32.2%（38/118）、18.6%（22/118）和17.8%（21/118）的病例伴有颅内、颅外和颅内 - 颅外异常。最常见的颅内和颅外异常分别是脑皮质发育异常和心血管异常。基因分析表明，37.8%（17/41）的患者存在基因异常。孤立性和非孤立性pACC病例中分别有25%（4/16）和52%（13/25）显示基因异常。8例孤立性病例出生，平均年龄28个月，神经发育正常。
CSP异常是pACC最常见的间接征象。中线处与TV相通的囊性肿块可能是pACC的另一间接征象。pACC可能伴有颅内和颅外异常。非孤立性pACC病例的基因异常检出率高于孤立性病例。孤立性pACC预后良好，但需要对神经发育进行长期随访。
