Abstract：
BACKGROUND: 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.
OBJECTIVE: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
OBJECTIVE: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
目的：由于影像学技术的改进，产前超声对call体异常的诊断在过去十年中有所改善。扫描技巧和常规实施经阴道神经超声检查。我们的目的是调查所有call体发育不全的病例，并报告超声特征。相关异常和围产期结局。
方法：我们对2007年1月至2017年12月的call体异常进行了回顾性分析，要么转介第二意见,要么来自一个三级转诊中心的产前超声筛查计划.从分析中排除完全发育不全的病例。标准化调查包括详细的胎儿超声检查，包括神经声像图，胎儿核型分析（标准核型或阵列CGH）和胎儿MRI。收集妊娠结局，并将终止妊娠或胎儿/新生儿丢失的情况下的病理调查与产前发现进行比较。报告妊娠和胎儿/新生儿结局。当无法进行Bayley调查时，儿科神经科医生使用Bayley婴儿发育II量表和标准化的儿童发育清单调查进行了神经系统评估。
结果：在研究期间，148例诊断出call体异常，其中62例（41.9%）由于完全发育不良而被排除，其余86例胎儿部分发育不全（58.1）。在20例中，部分发育不全（23.2％）被分离，而66例（76.7％）表现为不同的畸形，其中29例（43.9％）仅为中枢神经系统病变，21例（31.8％）是非CNS病变，在16例（24.3％）中发现了CNS和非CNS病变的组合。孤立和非孤立病例诊断时的平均胎龄相当：分别为24.29（SD5.05）和24.71（SD5.35）周。在86例部分发育不全的妊娠中，46例患者选择终止妊娠。对35名儿童进行了神经系统随访。21/35儿童（60％）的总体神经系统转归正常；3/35（8.6％）显示轻度，和6/35（17.1%）中度减值。其余5/35（14.3％）有严重损害。分离形式的中位随访时间为45.6个月（范围36-52个月）和非分离形式的73.3个月（范围2-138个月）。
结论：应通过神经超声和胎儿MRI准确研究部分call体发育不全，以描述其形态和相关异常。遗传异常经常出现在非孤立病例中。必须努力提高局部发育不全的超声诊断和对其孤立性质的确认，以加强父母的咨询。尽管产前诊断为离体发育不全的儿童在以后的生活中有60％的预后良好，他们通常患有轻度至重度残疾，包括学龄期的言语障碍和行为缺陷和运动缺陷障碍，这些障碍可能会在以后出现。
方法：我们对2007年1月至2017年12月的call体异常进行了回顾性分析，要么转介第二意见,要么来自一个三级转诊中心的产前超声筛查计划.从分析中排除完全发育不全的病例。标准化调查包括详细的胎儿超声检查，包括神经声像图，胎儿核型分析（标准核型或阵列CGH）和胎儿MRI。收集妊娠结局，并将终止妊娠或胎儿/新生儿丢失的情况下的病理调查与产前发现进行比较。报告妊娠和胎儿/新生儿结局。当无法进行Bayley调查时，儿科神经科医生使用Bayley婴儿发育II量表和标准化的儿童发育清单调查进行了神经系统评估。
结果：在研究期间，148例诊断出call体异常，其中62例（41.9%）由于完全发育不良而被排除，其余86例胎儿部分发育不全（58.1）。在20例中，部分发育不全（23.2％）被分离，而66例（76.7％）表现为不同的畸形，其中29例（43.9％）仅为中枢神经系统病变，21例（31.8％）是非CNS病变，在16例（24.3％）中发现了CNS和非CNS病变的组合。孤立和非孤立病例诊断时的平均胎龄相当：分别为24.29（SD5.05）和24.71（SD5.35）周。在86例部分发育不全的妊娠中，46例患者选择终止妊娠。对35名儿童进行了神经系统随访。21/35儿童（60％）的总体神经系统转归正常；3/35（8.6％）显示轻度，和6/35（17.1%）中度减值。其余5/35（14.3％）有严重损害。分离形式的中位随访时间为45.6个月（范围36-52个月）和非分离形式的73.3个月（范围2-138个月）。
结论：应通过神经超声和胎儿MRI准确研究部分call体发育不全，以描述其形态和相关异常。遗传异常经常出现在非孤立病例中。必须努力提高局部发育不全的超声诊断和对其孤立性质的确认，以加强父母的咨询。尽管产前诊断为离体发育不全的儿童在以后的生活中有60％的预后良好，他们通常患有轻度至重度残疾，包括学龄期的言语障碍和行为缺陷和运动缺陷障碍，这些障碍可能会在以后出现。
