Fetal-Maternal Medicine Unit, Department of Obstetrics and Gynecology, University Hospital Leuven, Leuven, Belgium; Department of Obstetrics and Gynecology, AZ Groeninge, Kortrijk, Belgium; Department of Development and Regeneration, University Hospital Leuven, Leuven, Belgium.
Department of Development and Regeneration, University Hospital Leuven, Leuven, Belgium; Department of Pediatrics, Pediatric Neurology Unit, University Hospital Leuven, Leuven, Belgium.
Am J Obstet Gynecol. 2024 Apr;230(4):456.e1-456.e9. doi: 10.1016/j.ajog.2023.10.007. Epub 2023 Oct 8.
The diagnosis of corpus callosum anomalies by prenatal ultrasound has improved over the last decade because of improved imaging techniques, scanning skills, and the routine implementation of transvaginal neurosonography.
Our aim was to investigate all cases of incomplete agenesis of the corpus callosum and to report the sonographic characteristics, the associated anomalies, and the perinatal outcomes.
We performed a retrospective analysis of cases from January 2007 to December 2017 with corpus callosum anomalies, either referred for a second opinion or derived from the prenatal ultrasound screening program in a single tertiary referral center. Cases with complete agenesis were excluded from the analysis. Standardized investigation included a detailed fetal ultrasound including neurosonogram, fetal karyotyping (standard karyotype or array comparative genomic hybridization) and fetal magnetic resonance imaging. The pregnancy outcome was collected, and pathologic investigation in case of termination of the pregnancy or fetal or neonatal loss was compared with the prenatal findings. The pregnancy and fetal or neonatal outcomes were reported. The neurologic assessment was conducted by a pediatric neurologist using the Bayley Scales of Infant Development-II and the standardized Child Development Inventory when the Bayley investigation was unavailable.
Corpus callosum anomalies were diagnosed in 148 cases during the study period, 62 (41.9%) of which were excluded because of complete agenesis, and 86 fetuses had partial agenesis (58.1%). In 20 cases, partial agenesis (23.2%) was isolated, whereas 66 (76.7%) presented with different malformations among which 29 cases (43.9%) were only central nervous system lesions, 21 cases (31.8%) were non-central nervous system lesions, and 16 cases (24.3%) had a combination of central nervous system and non-central nervous system lesions. The mean gestational age at diagnosis for isolated and non-isolated cases was comparable (24.29 [standard deviation, 5.05] weeks and 24.71 [standard deviation, 5.35] weeks, respectively). Of the 86 pregnancies with partial agenesis, 46 patients opted for termination of the pregnancy. Neurologic follow-up data were available for 35 children. The overall neurologic outcome was normal in 21 of 35 children (60%); 3 of 35 (8.6%) showed mild impairment and 6 of 35 (17.1%) showed moderate impairment. The remaining 5 of 35 (14.3%) had severe impairment. The median duration of follow-up for the isolated form was 45.6 months (range, 36-52 months) and 73.3 months (range, 2-138 months) for the nonisolated form.
Partial corpus callosum agenesis should be accurately investigated by neurosonography and fetal magnetic resonance imaging to describe its morphology and the associated anomalies. Genetic anomalies are frequently present in nonisolated cases. Efforts must be taken to improve ultrasound diagnosis of partial agenesis and to confirm its isolated nature to enhance parental counseling. Although 60% of children with prenatal diagnosis of isolated agenesis have a favorable prognosis later in life, they often have mild to severe disabilities including speech disorders at school age and behavior and motor deficit disorders that can emerge at a later age.
由于成像技术、扫描技术的提高以及经阴道神经超声检查的常规应用，过去十年间产前超声对胼胝体异常的诊断得到了改善。
我们旨在研究所有不完全性胼胝体发育不全的病例，并报告其超声特征、相关异常及围产儿结局。
我们对 2007 年 1 月至 2017 年 12 月期间因胼胝体异常而转诊或在单一定点转诊中心的产前超声筛查计划中检出的病例进行了回顾性分析。排除完全性发育不全的病例。标准检查包括详细的胎儿超声检查，包括神经超声、胎儿核型分析（标准核型或阵列比较基因组杂交）和胎儿磁共振成像。收集妊娠结局，并将终止妊娠或胎儿或新生儿死亡的病理检查结果与产前检查结果进行比较。报告妊娠和胎儿或新生儿结局。由儿科神经科医生使用贝利婴幼儿发育量表第二版和标准化儿童发育量表进行神经评估，如果贝利调查不可用。
在研究期间，共诊断出 148 例胼胝体异常，其中 62 例（41.9%）因完全发育不全而排除，86 例胎儿有部分发育不全（58.1%）。20 例（23.2%）为单纯性发育不全，66 例（76.7%）为不同畸形，其中 29 例（43.9%）仅为中枢神经系统病变，21 例（31.8%）为非中枢神经系统病变，16 例（24.3%）为中枢神经系统和非中枢神经系统病变合并存在。单纯性和非单纯性病例的平均诊断孕周相似（分别为 24.29[标准差，5.05]周和 24.71[标准差，5.35]周）。在 86 例部分发育不全的妊娠中，46 例患者选择终止妊娠。35 例儿童中有 32 例可获得神经随访数据。35 例儿童中，总体神经结局正常 21 例（60%）；轻度损害 3 例（8.6%）；中度损害 6 例（17.1%）；严重损害 5 例（14.3%）。单纯性胼胝体发育不全的中位随访时间为 45.6 个月（范围，36-52 个月），非单纯性胼胝体发育不全的中位随访时间为 73.3 个月（范围，2-138 个月）。
应通过神经超声和胎儿磁共振成像准确检查部分胼胝体发育不全，以描述其形态和相关异常。非单纯性病例常存在遗传异常。必须努力提高部分发育不全的超声诊断水平，并证实其孤立性，以加强对父母的咨询。尽管产前诊断为单纯性发育不全的儿童中有 60%在以后的生活中有良好的预后，但他们往往在学龄期有言语障碍和行为、运动缺陷障碍等轻至重度残疾，这些障碍可能在以后出现。
